ClinVar Miner

List of variants reported as not provided by SNPedia

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Total variants: 39
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HGVS dbSNP
NM_000041.4(APOE):c.292del (p.Glu98fs) rs527236160
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000133.3(F9):c.278-3A>G rs398122990
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1624G>T (p.Gly542Ter) rs113993959
NM_000492.3(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000527.4(LDLR):c.1356C>T (p.Cys452=) rs137853961
NM_000527.4(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.4(LDLR):c.1875C>T (p.Asn625=) rs137853962
NM_000527.4(LDLR):c.2061dup (p.Asn688fs) rs137853965
NM_000527.4(LDLR):c.2231G>A (p.Arg744Gln) rs137853963
NM_000527.4(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.653delG (p.G218Vfs*46) rs137853966
NM_000545.6(HNF1A):c.1522G>A (p.Glu508Lys) rs483353044
NM_000553.4(WRN):c.3139-1G>C rs113993961
NM_003640.5(ELP1):c.2204+6T>C rs111033171
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe) rs154774635
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640
NM_017882.3(CLN6):c.17G>C (p.Arg6Thr) rs154774636
NM_017882.3(CLN6):c.200T>C (p.Leu67Pro) rs154774633
NM_017882.3(CLN6):c.231C>G (p.Asn77Lys) rs154774641
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634
NM_017882.3(CLN6):c.446G>A (p.Arg149His) rs154774638
NM_017882.3(CLN6):c.712T>A (p.Phe238Ile) rs154774637
NM_017882.3(CLN6):c.890del (p.Pro297fs) rs154774639
NM_017890.4(VPS13B):c.3346_3347CT[1] (p.Cys1117fs) rs180177327
NM_017890.4(VPS13B):c.9260dupT (p.Leu3087Phefs) rs180177329
NM_020533.3(MCOLN1):c.406-2A>G rs104886461
NM_024312.5(GNPTAB):c.1875C>G (p.Phe625Leu) rs137853823
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys) rs137853825
NM_024312.5(GNPTAB):c.961A>G (p.Ser321Gly) rs137853824
NM_032485.6(MCM8):c.446C>G (p.Pro149Arg) rs606231343
NM_032520.5(GNPTG):c.688C>G (p.Leu230Val) rs137853827
NM_032520.5(GNPTG):c.74C>A (p.Ala25Glu) rs137853826
NM_170707.4(LMNA):c.1044G>T (p.Met348Ile) rs587777892

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