ClinVar Miner

List of variants reported as uncertain significance by Center for Statistical Genetics, Columbia University

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_182715.4(SYPL1):c.98G>A (p.Cys33Tyr) rs141399410 0.00088
NM_024824.5(ZC3H14):c.1279+9T>C rs200718239 0.00071
NM_002850.4(PTPRS):c.2552G>T (p.Arg851Leu) rs199604489 0.00037
NM_002291.3(LAMB1):c.2315-28A>G rs778943882 0.00016
NM_006988.5(ADAMTS1):c.403T>G (p.Ser135Ala) rs574673251 0.00012
NM_001365951.3(KIF1B):c.2115+6005C>T rs201589971 0.00007
NM_002850.4(PTPRS):c.3343G>A (p.Ala1115Thr) rs769925793 0.00004
NM_001378778.1(MPDZ):c.2324C>T (p.Pro775Leu) rs777767394 0.00002
NM_005921.2(MAP3K1):c.548G>A (p.Arg183Gln) rs1454725137 0.00002
NM_178860.5(SEZ6):c.2092G>A (p.Val698Ile) rs749349563 0.00002
NM_001165963.4(SCN1A):c.1891A>G (p.Met631Val) rs1336507340 0.00001
NM_001200.4(BMP2):c.178A>C (p.Met60Leu) rs773113395 0.00001
NM_001347886.2(DNAH3):c.11827A>G (p.Ile3943Val) rs2083549745 0.00001
NM_002473.6(MYH9):c.3682G>A (p.Glu1228Lys) rs746956415 0.00001
NM_014918.5(CHSY1):c.779G>A (p.Arg260Gln) rs1280894999 0.00001
NM_000260.4(MYO7A):c.4107G>T (p.Gln1369His) rs1565440220
NM_001142966.3(GREB1L):c.347C>T (p.Thr116Ile) rs1333304296
NM_001145319.2(PLS1):c.1087C>T (p.Leu363Phe) rs1560070780
NM_001301130.2(POLR2F):c.294-2A>G rs1932567269
NM_001348768.2(HECW2):c.2818G>A (p.Ala940Thr) rs1690650843
NM_001348768.2(HECW2):c.3175C>T (p.Pro1059Ser) rs372804977
NM_001348768.2(HECW2):c.951G>T (p.Gln317His) rs1324148127
NM_001365951.3(KIF1B):c.2681C>T (p.Pro894Leu) rs767893182
NM_002223.4(ITPR2):c.541A>G (p.Lys181Glu) rs1020261536
NM_002461.3(MVD):c.1136C>A (p.Pro379His) rs1200311854
NM_002529.4(NTRK1):c.2271C>G (p.Tyr757Ter) rs141540032
NM_003335.3(UBA7):c.1904+3A>G rs2081514066
NM_003439.4(ZKSCAN1):c.1410C>G (p.Phe470Leu) rs1224233696
NM_003718.5(CDK13):c.3291C>A (p.Asn1097Lys) rs755667901
NM_016107.5(ZFR):c.2667C>G (p.Asp889Glu) rs1752903595
NM_016355.4(DDX47):c.1129C>A (p.Arg377Ser) rs201803737
NM_032437.4(EFCAB7):c.1350_1351del
NM_032437.4(EFCAB7):c.830del (p.Gly277fs)
NM_138927.4(SON):c.6869A>C (p.Gln2290Pro) rs2086229315
NM_139058.3(ARX):c.549GCC[5] (p.Pro187dup) rs1308129416
Single allele

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