ClinVar Miner

List of variants reported as likely pathogenic for Maturity-onset diabetes of the young, type 1

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Total variants: 14
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HGVS dbSNP
HNF4A deletion
NM_000457.4(HNF4A):c.1163C>G (p.Pro388Arg) rs193922469
NM_000457.4(HNF4A):c.1253G>C (p.Cys418Ser) rs193922470
NM_000457.4(HNF4A):c.347_348delinsC (p.Arg116fs) rs193922471
NM_000457.4(HNF4A):c.536_538AGA[1] (p.Lys180del) rs1280663753
NM_000457.4(HNF4A):c.619G>C (p.Ala207Pro) rs193922474
NM_000457.4(HNF4A):c.641_648+10del rs193922475
NM_000457.4(HNF4A):c.726_728delinsTCAA (p.Leu243fs) rs193922476
NM_000457.5(HNF4A):c.834G>C (p.Glu278Asp) rs193922477
NM_000457.5(HNF4A):c.991C>T (p.Arg331Cys) rs193922479
NM_175914.4(HNF4A):c.201del (p.Lys68fs) rs1385251852
NM_175914.4(HNF4A):c.640T>A (p.Ser214Thr) rs1060499693
NM_175914.4(HNF4A):c.740T>C (p.Leu247Pro) rs1555816654
NM_175914.4(HNF4A):c.869G>A (p.Arg290His) rs1191912908

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