ClinVar Miner

List of variants in gene combination LOC126860469, ZFPM2 reported as likely benign for 46,XY sex reversal 9

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_012082.4(ZFPM2):c.2963A>C (p.Lys988Thr) rs139881948 0.00068
NM_012082.4(ZFPM2):c.3268G>A (p.Val1090Ile) rs191385674 0.00060
NM_012082.4(ZFPM2):c.3049G>A (p.Gly1017Ser) rs201106296 0.00021
NM_012082.4(ZFPM2):c.2262A>G (p.Pro754=) rs369014203 0.00005
NM_012082.4(ZFPM2):c.2700C>T (p.Ser900=) rs1181745433 0.00003
NM_012082.4(ZFPM2):c.3014A>G (p.Glu1005Gly) rs537023953 0.00003
NM_012082.4(ZFPM2):c.3060C>T (p.Ser1020=) rs534751136 0.00003
NM_012082.4(ZFPM2):c.3077C>T (p.Ala1026Val) rs779273741 0.00003
NM_012082.4(ZFPM2):c.2355C>T (p.His785=) rs373483337 0.00001
NM_012082.4(ZFPM2):c.2562C>T (p.His854=) rs771156942 0.00001
NM_012082.4(ZFPM2):c.2688G>A (p.Pro896=) rs1434631824 0.00001
NM_012082.4(ZFPM2):c.2718T>C (p.Asp906=) rs1456578169 0.00001
NM_012082.4(ZFPM2):c.3213C>T (p.Asp1071=) rs752938527 0.00001
NM_012082.4(ZFPM2):c.3231G>A (p.Ser1077=) rs775570126 0.00001
NM_012082.4(ZFPM2):c.2136A>G (p.Thr712=)
NM_012082.4(ZFPM2):c.2286C>T (p.Asp762=) rs372431089
NM_012082.4(ZFPM2):c.2328C>T (p.Pro776=) rs756454547
NM_012082.4(ZFPM2):c.2373T>C (p.Phe791=)
NM_012082.4(ZFPM2):c.2376A>G (p.Pro792=)
NM_012082.4(ZFPM2):c.2487C>A (p.Pro829=)
NM_012082.4(ZFPM2):c.2532C>T (p.Thr844=) rs1391767231
NM_012082.4(ZFPM2):c.2712C>T (p.Ser904=) rs2131181789
NM_012082.4(ZFPM2):c.2910A>T (p.Gly970=) rs2488162959
NM_012082.4(ZFPM2):c.2934C>T (p.Ala978=)
NM_012082.4(ZFPM2):c.3138T>C (p.Gly1046=)
NM_012082.4(ZFPM2):c.3303G>A (p.Leu1101=) rs2488165958

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