ClinVar Miner

List of variants reported as uncertain significance for 46,XY sex reversal 9 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_012082.4(ZFPM2):c.463A>G (p.Lys155Glu) rs200671886 0.00033
NM_012082.4(ZFPM2):c.2969G>A (p.Ser990Asn) rs201707218 0.00029
NM_012082.4(ZFPM2):c.3086A>T (p.Lys1029Ile) rs201729935 0.00026
NM_012082.4(ZFPM2):c.1183A>G (p.Ser395Gly) rs201091005 0.00014
NM_012082.4(ZFPM2):c.121C>G (p.Pro41Ala) rs199535268 0.00014
NM_012082.4(ZFPM2):c.74A>G (p.Glu25Gly) rs371244942 0.00009
NM_012082.4(ZFPM2):c.1349C>T (p.Thr450Met) rs866092815 0.00007
NM_012082.4(ZFPM2):c.2593A>G (p.Lys865Glu) rs367893066 0.00006
NM_012082.4(ZFPM2):c.442A>G (p.Met148Val) rs370456245 0.00006
NM_012082.4(ZFPM2):c.617T>C (p.Leu206Pro) rs368572530 0.00006
NM_012082.4(ZFPM2):c.444G>C (p.Met148Ile) rs373855468 0.00005
NM_012082.4(ZFPM2):c.1592G>A (p.Gly531Asp) rs768867827 0.00004
NM_012082.4(ZFPM2):c.2206C>T (p.Arg736Cys) rs371546027 0.00004
NM_012082.4(ZFPM2):c.2633C>T (p.Pro878Leu) rs753602172 0.00004
NM_012082.4(ZFPM2):c.2783A>G (p.Asn928Ser) rs531935937 0.00004
NM_012082.4(ZFPM2):c.3298C>G (p.Gln1100Glu) rs199678497 0.00004
NM_012082.4(ZFPM2):c.664C>T (p.Arg222Cys) rs373471482 0.00004
NM_012082.4(ZFPM2):c.964+4A>C rs749813399 0.00004
NM_012082.4(ZFPM2):c.1274A>T (p.Lys425Met) rs771923819 0.00003
NM_012082.4(ZFPM2):c.1318A>G (p.Lys440Glu) rs200311467 0.00003
NM_012082.4(ZFPM2):c.1463T>C (p.Ile488Thr) rs775854541 0.00003
NM_012082.4(ZFPM2):c.1721G>A (p.Arg574Gln) rs773843701 0.00003
NM_012082.4(ZFPM2):c.241G>A (p.Asp81Asn) rs888264289 0.00003
NM_012082.4(ZFPM2):c.280A>G (p.Thr94Ala) rs563358406 0.00003
NM_012082.4(ZFPM2):c.2935G>A (p.Asp979Asn) rs201644250 0.00003
NM_012082.4(ZFPM2):c.3418T>G (p.Phe1140Val) rs775648923 0.00003
NM_012082.4(ZFPM2):c.760T>G (p.Ser254Ala) rs953556550 0.00003
NM_012082.4(ZFPM2):c.1786A>G (p.Ser596Gly) rs549091064 0.00002
NM_012082.4(ZFPM2):c.1889C>T (p.Thr630Ile) rs756076552 0.00002
NM_012082.4(ZFPM2):c.2300A>G (p.Asn767Ser) rs374095734 0.00002
NM_012082.4(ZFPM2):c.2650C>T (p.Arg884Cys) rs778808844 0.00002
NM_012082.4(ZFPM2):c.2651G>A (p.Arg884His) rs747995106 0.00002
NM_012082.4(ZFPM2):c.2759G>A (p.Gly920Glu) rs747010827 0.00002
NM_012082.4(ZFPM2):c.842C>G (p.Ala281Gly) rs770354767 0.00002
NM_012082.4(ZFPM2):c.1168A>C (p.Lys390Gln) rs536096943 0.00001
NM_012082.4(ZFPM2):c.1186G>A (p.Asp396Asn) rs1392344120 0.00001
NM_012082.4(ZFPM2):c.1413G>C (p.Lys471Asn) rs1436382829 0.00001
NM_012082.4(ZFPM2):c.1456C>T (p.Pro486Ser) rs2488152565 0.00001
NM_012082.4(ZFPM2):c.1693G>T (p.Val565Leu) rs768944942 0.00001
NM_012082.4(ZFPM2):c.1727A>G (p.Gln576Arg) rs761315189 0.00001
NM_012082.4(ZFPM2):c.2119C>G (p.Gln707Glu) rs765282505 0.00001
NM_012082.4(ZFPM2):c.2393A>G (p.His798Arg) rs544936088 0.00001
NM_012082.4(ZFPM2):c.2411C>T (p.Thr804Met) rs773282164 0.00001
NM_012082.4(ZFPM2):c.2534C>T (p.Thr845Met) rs530517993 0.00001
NM_012082.4(ZFPM2):c.2903A>G (p.Tyr968Cys) rs908430101 0.00001
NM_012082.4(ZFPM2):c.2930G>A (p.Gly977Glu) rs759084301 0.00001
NM_012082.4(ZFPM2):c.2983G>A (p.Gly995Ser) rs779361639 0.00001
NM_012082.4(ZFPM2):c.3037G>C (p.Glu1013Gln) rs200487685 0.00001
NM_012082.4(ZFPM2):c.3218A>T (p.His1073Leu) rs372775117 0.00001
NM_012082.4(ZFPM2):c.3294G>C (p.Glu1098Asp) rs149688628 0.00001
NM_012082.4(ZFPM2):c.364G>T (p.Val122Leu) rs772114579 0.00001
NM_012082.4(ZFPM2):c.761C>T (p.Ser254Phe) rs1477755260 0.00001
NM_012082.4(ZFPM2):c.787C>T (p.Arg263Trp) rs748284620 0.00001
NM_012082.4(ZFPM2):c.845C>T (p.Pro282Leu) rs767588150 0.00001
NM_012082.4(ZFPM2):c.860A>G (p.Asn287Ser) rs766134060 0.00001
NM_012082.4(ZFPM2):c.959A>G (p.His320Arg) rs770131455 0.00001
NM_012082.4(ZFPM2):c.991C>T (p.Pro331Ser) rs1009890614 0.00001
NC_000008.10:g.(?_106331170)_(106674812_?)dup
NM_012082.4(ZFPM2):c.1093T>G (p.Cys365Gly)
NM_012082.4(ZFPM2):c.1210A>C (p.Thr404Pro) rs1586283411
NM_012082.4(ZFPM2):c.1313T>C (p.Leu438Pro)
NM_012082.4(ZFPM2):c.1334C>T (p.Thr445Ile)
NM_012082.4(ZFPM2):c.1359A>C (p.Arg453Ser)
NM_012082.4(ZFPM2):c.139T>A (p.Ser47Thr)
NM_012082.4(ZFPM2):c.142A>G (p.Thr48Ala)
NM_012082.4(ZFPM2):c.1436T>C (p.Leu479Pro) rs1586283783
NM_012082.4(ZFPM2):c.1477C>T (p.Pro493Ser)
NM_012082.4(ZFPM2):c.1510C>T (p.Pro504Ser)
NM_012082.4(ZFPM2):c.1631T>C (p.Met544Thr)
NM_012082.4(ZFPM2):c.1639G>A (p.Gly547Arg) rs1409008207
NM_012082.4(ZFPM2):c.1758T>A (p.Ser586Arg)
NM_012082.4(ZFPM2):c.1818_1820del (p.Leu607del) rs763555819
NM_012082.4(ZFPM2):c.1892T>G (p.Val631Gly) rs2488155925
NM_012082.4(ZFPM2):c.2067_2071del (p.Glu690fs)
NM_012082.4(ZFPM2):c.2096A>C (p.His699Pro) rs368486644
NM_012082.4(ZFPM2):c.2146C>T (p.Pro716Ser) rs1554583195
NM_012082.4(ZFPM2):c.2147C>A (p.Pro716His) rs1814048128
NM_012082.4(ZFPM2):c.2173A>G (p.Lys725Glu)
NM_012082.4(ZFPM2):c.2207G>A (p.Arg736His) rs779236742
NM_012082.4(ZFPM2):c.2230A>C (p.Met744Leu)
NM_012082.4(ZFPM2):c.2230A>T (p.Met744Leu) rs757882709
NM_012082.4(ZFPM2):c.2236C>G (p.Leu746Val)
NM_012082.4(ZFPM2):c.2261C>A (p.Pro754Gln)
NM_012082.4(ZFPM2):c.2295C>A (p.Asn765Lys) rs2131180275
NM_012082.4(ZFPM2):c.2311A>G (p.Thr771Ala) rs2488158962
NM_012082.4(ZFPM2):c.2336G>A (p.Gly779Glu)
NM_012082.4(ZFPM2):c.2384T>C (p.Val795Ala) rs1563574497
NM_012082.4(ZFPM2):c.2449A>T (p.Thr817Ser)
NM_012082.4(ZFPM2):c.2493T>G (p.Asp831Glu) rs2488160239
NM_012082.4(ZFPM2):c.2545A>G (p.Arg849Gly) rs2131181158
NM_012082.4(ZFPM2):c.2673C>G (p.Asp891Glu) rs567353284
NM_012082.4(ZFPM2):c.268C>A (p.Pro90Thr)
NM_012082.4(ZFPM2):c.2695G>A (p.Glu899Lys)
NM_012082.4(ZFPM2):c.2762A>G (p.Asn921Ser) rs771987459
NM_012082.4(ZFPM2):c.2794T>C (p.Phe932Leu)
NM_012082.4(ZFPM2):c.286G>T (p.Asp96Tyr) rs772042320
NM_012082.4(ZFPM2):c.2999A>G (p.His1000Arg)
NM_012082.4(ZFPM2):c.3032A>C (p.Glu1011Ala)
NM_012082.4(ZFPM2):c.3090T>G (p.Asp1030Glu) rs2488164202
NM_012082.4(ZFPM2):c.3124G>T (p.Val1042Leu) rs545237723
NM_012082.4(ZFPM2):c.3161C>T (p.Pro1054Leu) rs1814096724
NM_012082.4(ZFPM2):c.322A>G (p.Lys108Glu) rs1815131947
NM_012082.4(ZFPM2):c.3262G>A (p.Glu1088Lys) rs2488165601
NM_012082.4(ZFPM2):c.3326A>T (p.Asn1109Ile) rs2488166139
NM_012082.4(ZFPM2):c.3334A>G (p.Ser1112Gly) rs1554583419
NM_012082.4(ZFPM2):c.3377T>C (p.Ile1126Thr)
NM_012082.4(ZFPM2):c.3391C>T (p.Leu1131Phe)
NM_012082.4(ZFPM2):c.3428C>T (p.Ser1143Leu)
NM_012082.4(ZFPM2):c.407A>G (p.Asn136Ser)
NM_012082.4(ZFPM2):c.445G>A (p.Val149Met)
NM_012082.4(ZFPM2):c.452C>T (p.Thr151Ile)
NM_012082.4(ZFPM2):c.461C>T (p.Pro154Leu)
NM_012082.4(ZFPM2):c.477T>A (p.Asp159Glu) rs2536997524
NM_012082.4(ZFPM2):c.478G>A (p.Val160Met)
NM_012082.4(ZFPM2):c.490G>A (p.Gly164Arg)
NM_012082.4(ZFPM2):c.587T>C (p.Ile196Thr)
NM_012082.4(ZFPM2):c.593T>C (p.Phe198Ser) rs2131136061
NM_012082.4(ZFPM2):c.895C>G (p.Pro299Ala)
NM_012082.4(ZFPM2):c.898_900dup (p.Phe300_Pro301insPhe) rs774999938
NM_012082.4(ZFPM2):c.945G>T (p.Met315Ile) rs1813918761

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