ClinVar Miner

List of variants reported as likely pathogenic by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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Total variants: 56
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HGVS dbSNP
NM_000187.4(HGD):c.1114G>A (p.Gly372Arg)
NM_000187.4(HGD):c.127C>G (p.Gln43Glu)
NM_000187.4(HGD):c.131T>C (p.Leu44Pro)
NM_000187.4(HGD):c.413G>A (p.Cys138Tyr)
NM_000187.4(HGD):c.536T>G (p.Ile179Ser)
NM_000187.4(HGD):c.665C>A (p.Ala222Asp)
NM_000187.4(HGD):c.753C>T (p.Gly251=)
NM_000235.4(LIPA):c.600G>A (p.Leu200=)
NM_000271.5(NPC1):c.[2727C>T;2793C>T]
NM_000282.4(PCCA):c.1643+1_1643+2dup rs1555425626
NM_000282.4(PCCA):c.1899+2_1899+3insCT
NM_000527.5(LDLR):c.325T>G (p.Cys109Gly)
NM_000527.5(LDLR):c.401G>C (p.Cys134Ser)
NM_000532.5(PCCB):c.1091-8_1091-3del rs1249235758
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser) rs1553778909
NM_000814.6(GABRB3):c.733T>C (p.Tyr245His)
NM_001032221.6(STXBP1):c.784G>T (p.Asp262Tyr)
NM_001040142.2(SCN2A):c.1058G>C (p.Cys353Ser)
NM_001040142.2(SCN2A):c.1255T>A (p.Leu419Met)
NM_001040142.2(SCN2A):c.2501G>A (p.Ser834Asn)
NM_001099922.3(ALG13):c.320A>T (p.Asn107Ile)
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val) rs1599294284
NM_001130987.2(DYSF):c.4528-2A>G rs1213965862
NM_001130987.2(DYSF):c.5547-2A>G
NM_001165963.4(SCN1A):c.4428C>G (p.Asn1476Lys)
NM_001165963.4(SCN1A):c.5546T>C (p.Leu1849Pro)
NM_001165963.4(SCN1A):c.5768A>C (p.Gln1923Pro)
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val) rs915676341
NM_001323289.2(CDKL5):c.290T>C (p.Leu97Pro)
NM_001323289.2(CDKL5):c.65G>C (p.Gly22Ala)
NM_001330260.2(SCN8A):c.2668G>C (p.Ala890Pro)
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
NM_001953.5(TYMP):c.1001T>G (p.Leu334Arg) rs1251044974
NM_002693.2(POLG):c.2310C>A (p.Phe770Leu) rs755315398
NM_002693.2(POLG):c.2591A>T (p.Asn864Ile) rs121918050
NM_002693.2(POLG):c.2665G>C (p.Ala889Pro) rs763393580
NM_002693.2(POLG):c.2678C>T (p.Ser893Phe) rs1596352300
NM_002693.2(POLG):c.2792T>G (p.Leu931Arg) rs1484810169
NM_002693.2(POLG):c.3522C>A (p.Pro1174=) rs751676137
NM_003165.4(STXBP1):c.1217G>T (p.Arg406Leu) rs886041246
NM_004614.5(TK2):c.169G>A (p.Gly57Ser) rs749123392
NM_004614.5(TK2):c.310C>T (p.Arg104Cys) rs1194187379
NM_004614.5(TK2):c.338T>A (p.Val113Glu) rs746707855
NM_004614.5(TK2):c.655T>C (p.Trp219Arg) rs748655443
NM_004975.4(KCNB1):c.1217C>T (p.Ala406Val) rs1601071099
NM_006586.5(CNPY3):c.628C>T (p.Gln210Ter)
NM_020822.3(KCNT1):c.1885A>C (p.Lys629Gln)
NM_020988.3(GNAO1):c.731T>A (p.Met244Lys)
NM_021830.5(TWNK):c.1199G>T (p.Arg400Leu) rs781016340
NM_021830.5(TWNK):c.1232C>T (p.Thr411Met) rs1451037596
NM_021830.5(TWNK):c.1272C>G (p.Phe424Leu) rs773918715
NM_021830.5(TWNK):c.1314C>G (p.Asn438Lys) rs1366090807
NM_021830.5(TWNK):c.1628G>A (p.Arg543Gln) rs753386843
NM_021830.5(TWNK):c.574C>T (p.Arg192Cys) rs1590018153
NM_021830.5(TWNK):c.737A>G (p.Asn246Ser) rs754081544
NM_172107.4(KCNQ2):c.581C>T (p.Thr194Ile)

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