ClinVar Miner

List of variants reported as likely pathogenic by Translational Genomics Laboratory,University of Maryland School of Medicine

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Total variants: 14
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HGVS dbSNP
NM_000162.5(GCK):c.113A>C (p.Gln38Pro) rs1064794268
NM_000162.5(GCK):c.122T>C (p.Met41Thr) rs1057524906
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.1344del (p.Ala449fs) rs1057524901
NM_000162.5(GCK):c.1361C>A (p.Ala454Glu) rs1057524900
NM_000162.5(GCK):c.718A>G (p.Asn240Asp) rs1562715574
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331
NM_000207.3(INS):c.278A>G (p.Glu93Gly) rs1057524907
NM_000207.3(INS):c.290C>G (p.Thr97Ser) rs1564911425
NM_000218.2(KCNQ1):c.671C>T (p.Thr224Met) rs199472706
NM_000457.4(HNF4A):c.267del (p.Lys90fs) rs1385251852
NM_000525.3(KCNJ11):c.697C>T (p.Leu233Phe) rs1564865302
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555

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