ClinVar Miner

List of variants studied for Ritscher-Schinzel syndrome 1

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_014846.4(WASHC5):c.2257C>T (p.Arg753Cys) rs780719370 0.00003
NM_014008.5(CCDC22):c.1670A>G (p.Tyr557Cys) rs863225429
NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala) rs863225428
NM_014846.4(WASHC5):c.1133T>G (p.Leu378Arg) rs758822672
NM_014846.4(WASHC5):c.1136A>G (p.His379Arg)
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) rs1554593901
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.3209del (p.Pro1070fs)
NM_014846.4(WASHC5):c.3335+2T>A rs398123007
NM_014846.4(WASHC5):c.420T>A (p.Cys140Ter) rs148562491

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