ClinVar Miner

List of variants reported as benign for Joubert syndrome 25 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_014704.4(CEP104):c.744A>G (p.Glu248=) rs1891941 0.90437
NM_014704.4(CEP104):c.1836+7A>G rs6413779 0.90433
NM_014704.4(CEP104):c.558G>A (p.Thr186=) rs2275822 0.41945
NM_014704.4(CEP104):c.2152-11C>T rs6663840 0.38899
NM_014704.4(CEP104):c.1240T>A (p.Leu414Ile) rs2275824 0.32901
NM_014704.4(CEP104):c.566+6A>T rs72848418 0.12842
NM_014704.4(CEP104):c.2057C>T (p.Ala686Val) rs2275831 0.09574
NM_014704.4(CEP104):c.1313C>A (p.Thr438Asn) rs776187298 0.03483
NM_014704.4(CEP104):c.735+17A>G rs2298224 0.02006
NM_014704.4(CEP104):c.681G>A (p.Lys227=) rs61746709 0.01114
NM_014704.4(CEP104):c.2569G>A (p.Glu857Lys) rs111626991 0.00830
NM_014704.4(CEP104):c.552A>T (p.Glu184Asp) rs61745578 0.00658
NM_014704.4(CEP104):c.1363C>T (p.Leu455=) rs115015364 0.00657
NM_014704.4(CEP104):c.177G>A (p.Leu59=) rs79859848 0.00657
NM_014704.4(CEP104):c.1386A>G (p.Leu462=) rs76234817 0.00655
NM_014704.4(CEP104):c.1836+14G>A rs75027831 0.00632
NM_014704.4(CEP104):c.416T>C (p.Ile139Thr) rs76925798 0.00402
NM_014704.4(CEP104):c.1884G>T (p.Thr628=) rs12144567 0.00398
NM_014704.4(CEP104):c.1914A>G (p.Arg638=) rs2275829 0.00386
NM_014704.4(CEP104):c.1308A>T (p.Gly436=) rs148455387 0.00315
NM_014704.4(CEP104):c.1966C>T (p.Arg656Cys) rs148465057 0.00276
NM_014704.4(CEP104):c.490-18G>A rs150128798 0.00270
NM_014704.4(CEP104):c.1169A>G (p.His390Arg) rs145728798 0.00181
NM_014704.4(CEP104):c.588G>A (p.Pro196=) rs141751043 0.00162
NM_014704.4(CEP104):c.1340C>T (p.Thr447Met) rs138897239 0.00135
NM_014704.4(CEP104):c.2736C>T (p.Gly912=) rs148360595 0.00114
NM_014704.4(CEP104):c.2124A>G (p.Ala708=) rs139817583 0.00107
NM_014704.4(CEP104):c.2255+10G>A rs140847871 0.00106
NM_014704.4(CEP104):c.2234C>T (p.Pro745Leu) rs201407033 0.00031
NM_014704.4(CEP104):c.2564G>A (p.Gly855Glu) rs148840465 0.00019
NM_014704.4(CEP104):c.2504-14T>A rs781194041 0.00017
NM_014704.4(CEP104):c.1636G>A (p.Val546Ile) rs199751526 0.00016
NM_014704.4(CEP104):c.1317+15_1317+16insC rs1553162954 0.00001
NM_014704.4(CEP104):c.1083G>A (p.Pro361=) rs61740614
NM_014704.4(CEP104):c.1313_1317+2del
NM_014704.4(CEP104):c.1314_1317+2del
NM_014704.4(CEP104):c.1317+15_1317+16insAAC rs762038535
NM_014704.4(CEP104):c.2111G>A (p.Gly704Glu) rs139181137
NM_014704.4(CEP104):c.2662+15C>T
NM_014704.4(CEP104):c.490G>T (p.Ala164Ser) rs140856596

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