ClinVar Miner

List of variants in gene WASHC5 studied for Ritscher-Schinzel syndrome 1

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_014846.4(WASHC5):c.867A>C (p.Val289=) rs79464415 0.00491
NM_014846.4(WASHC5):c.2422A>G (p.Ile808Val) rs144507279 0.00024
NM_014846.4(WASHC5):c.2489G>A (p.Arg830Gln) rs749703625 0.00004
NM_014846.4(WASHC5):c.2257C>T (p.Arg753Cys) rs780719370 0.00003
NM_014846.4(WASHC5):c.625G>A (p.Glu209Lys) rs565980279 0.00002
NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter) rs754463353 0.00001
NM_014846.4(WASHC5):c.872G>A (p.Ser291Asn) rs753529606 0.00001
NM_014846.4(WASHC5):c.1133T>G (p.Leu378Arg) rs758822672
NM_014846.4(WASHC5):c.1136A>G (p.His379Arg)
NM_014846.4(WASHC5):c.1151-2A>G rs1563627853
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) rs1554593901
NM_014846.4(WASHC5):c.1883A>G (p.Gln628Arg) rs1816420898
NM_014846.4(WASHC5):c.210del (p.Lys70fs)
NM_014846.4(WASHC5):c.232C>T (p.Gln78Ter) rs1586390087
NM_014846.4(WASHC5):c.2429A>T (p.Lys810Met) rs780468544
NM_014846.4(WASHC5):c.2849A>G (p.Lys950Arg) rs1815967070
NM_014846.4(WASHC5):c.2954+3_2954+4delinsCG
NM_014846.4(WASHC5):c.2954+3_2954+4delinsGC
NM_014846.4(WASHC5):c.420T>A (p.Cys140Ter) rs148562491

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