ClinVar Miner

List of variants reported as uncertain significance for idiopathic disease by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (89):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001098668.4(SFTPA2):c.253C>T (p.Arg85Cys) rs150273659 0.00321
NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser) rs148985177 0.00069
NM_001283009.2(RTEL1):c.245C>T (p.Pro82Leu) rs143461704 0.00042
NM_001283009.2(RTEL1):c.3311C>T (p.Thr1104Ile) rs190297758 0.00040
NM_001039.4(SCNN1G):c.1532T>A (p.Leu511Gln) rs113234492 0.00024
NM_001038.6(SCNN1A):c.1426C>T (p.Arg476Trp) rs113622727 0.00020
NM_001283009.2(RTEL1):c.3509G>A (p.Arg1170Gln) rs375593361 0.00006
NM_173689.7(CRB2):c.3754C>T (p.Arg1252Cys) rs537738396 0.00006
NM_001038.6(SCNN1A):c.1523G>A (p.Arg508Gln) rs763359949 0.00005
NM_002582.4(PARN):c.407A>T (p.Gln136Leu) rs374762200 0.00005
NM_198253.3(TERT):c.2141C>T (p.Thr714Met) rs772441504 0.00005
NM_001283009.2(RTEL1):c.763G>A (p.Val255Met) rs778675789 0.00004
NM_001039.4(SCNN1G):c.564C>A (p.His188Gln) rs899371749 0.00003
NM_001283009.2(RTEL1):c.2306G>A (p.Arg769His) rs369014080 0.00003
NM_001283009.2(RTEL1):c.3487G>T (p.Ala1163Ser) rs550764571 0.00003
NM_001038.6(SCNN1A):c.457A>T (p.Ile153Phe) rs775335440 0.00002
NM_001283009.2(RTEL1):c.1058C>T (p.Ala353Val) rs762936013 0.00001
NM_001283009.2(RTEL1):c.2098C>T (p.Arg700Trp) rs1003156687 0.00001
NM_001283009.2(RTEL1):c.2114A>G (p.Tyr705Cys) rs2090684972 0.00001
NM_001283009.2(RTEL1):c.3790C>T (p.Arg1264Cys) rs761902346 0.00001
NM_002582.4(PARN):c.1067A>G (p.Asn356Ser) rs757655633 0.00001
NM_002582.4(PARN):c.245A>G (p.Lys82Arg) rs201235100 0.00001
NM_198253.3(TERT):c.2321G>A (p.Arg774Gln) rs1579564912 0.00001
NM_198253.3(TERT):c.2419G>A (p.Asp807Asn) rs1169312254 0.00001
NR_001566.3(TERC):n.36C>T rs1248582778 0.00001
NM_000278.5(PAX2):c.263C>T (p.Pro88Leu) rs1845410479
NM_000336.3(SCNN1B):c.1328T>C (p.Met443Thr)
NM_000336.3(SCNN1B):c.1329G>A (p.Met443Ile)
NM_000336.3(SCNN1B):c.372G>T (p.Glu124Asp)
NM_001038.6(SCNN1A):c.133G>C (p.Glu45Gln)
NM_001039.4(SCNN1G):c.1654G>A (p.Val552Ile) rs2141946564
NM_001039.4(SCNN1G):c.201C>G (p.Ile67Met)
NM_001098668.4(SFTPA2):c.676G>A (p.Glu226Lys)
NM_001283009.2(RTEL1):c.1675TTC[1] (p.Phe560del) rs779176651
NM_001283009.2(RTEL1):c.2924G>A (p.Gly975Asp)
NM_001283009.2(RTEL1):c.2932T>C (p.Tyr978His) rs534046818
NM_001283009.2(RTEL1):c.2944C>T (p.His982Tyr)
NM_001283009.2(RTEL1):c.3143G>A (p.Gly1048Glu)
NM_001283009.2(RTEL1):c.3437C>G (p.Pro1146Arg) rs749331637
NM_001283009.2(RTEL1):c.3874del (p.Met1292fs)
NM_002582.4(PARN):c.39C>G (p.His13Gln) rs2151826881
NM_173689.7(CRB2):c.2803G>C (p.Gly935Arg)
NM_198253.3(TERT):c.1562G>T (p.Arg521Leu) rs1060503002
NM_198253.3(TERT):c.2152G>A (p.Asp718Asn) rs1579574994
NM_198253.3(TERT):c.307_308delinsGG (p.Leu103Gly) rs1751266537
NM_198253.3(TERT):c.3334C>A (p.Leu1112Met) rs1579541689

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