ClinVar Miner

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

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284 0.00003
NM_024572.4(GALNT14):c.1273C>T (p.Arg425Ter) rs201118996 0.00003
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185 0.00002
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) rs121918173 0.00001
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp) rs786205673 0.00001
NM_001079514.3(UBN1):c.2356T>A (p.Leu786Met) rs765004815 0.00001
NM_003803.4(MYOM1):c.4987G>A (p.Val1663Met) rs751200138 0.00001
NM_000079.4(CHRNA1):c.687C>T (p.Arg229=) rs545520806
NM_000181.4(GUSB):c.1586A>G (p.Tyr529Cys) rs786205674
NM_000181.4(GUSB):c.398G>C (p.Trp133Ser) rs786205671
NM_000308.4(CTSA):c.595del (p.Leu199fs) rs786205670
NM_001127392.3(MYRF):c.789dup (p.Ser264fs) rs769274302
NM_001142864.4(PIEZO1):c.1792G>A (p.Val598Met) rs2142820621
NM_001142864.4(PIEZO1):c.2610G>A (p.Met870Ile) rs1247870598
NM_001142864.4(PIEZO1):c.5716_5738del (p.Pro1906fs) rs2142762329
NM_003506.4(FZD6):c.869A>G (p.Tyr290Cys) rs786205672
NM_004985.5(KRAS):c.220A>C (p.Thr74Pro) rs770020203
NM_005251.3(FOXC2):c.1027G>T (p.Glu343Ter) rs1223233551
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_015355.4(SUZ12):c.1451del (p.Gly484fs) rs2142215876
NM_018676.4(THSD1):c.617G>A (p.Cys206Tyr) rs786205669
NM_018676.4(THSD1):c.670C>T (p.Arg224Ter) rs9536062
NM_153747.2(PIGC):c.659T>C (p.Leu220Pro) rs786205667

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