ClinVar Miner

List of variants reported as likely pathogenic for Non-immune hydrops fetalis

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Total variants: 15
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HGVS dbSNP
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) rs121918173
NM_000181.4(GUSB):c.1586A>G (p.Tyr529Cys) rs786205674
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp) rs786205673
NM_000181.4(GUSB):c.398G>C (p.Trp133Ser) rs786205671
NM_000308.3(CTSA):c.649del (p.Leu217fs) rs786205670
NM_001039523.3(CHRNA1):c.762C>T (p.Arg254=) rs545520806
NM_001079514.3(UBN1):c.2356T>A (p.Leu786Met) rs765004815
NM_001271208.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284
NM_003506.4(FZD6):c.869A>G (p.Tyr290Cys) rs786205672
NM_003803.3(MYOM1):c.4987G>A (p.Val1663Met) rs751200138
NM_018676.4(THSD1):c.617G>A (p.Cys206Tyr) rs786205669
NM_018676.4(THSD1):c.670C>T (p.Arg224Ter) rs9536062
NM_024572.4(GALNT14):c.1273C>T (p.Arg425Ter) rs201118996
NM_153747.2(PIGC):c.659T>C (p.Leu220Pro) rs786205667

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