ClinVar Miner

List of variants reported as pathogenic for Ritscher-Schinzel syndrome

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_014846.4(WASHC5):c.2008C>T (p.Arg670Ter) rs762401591 0.00001
NM_014846.4(WASHC5):c.511C>T (p.Arg171Ter) rs1462319941 0.00001
NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter) rs754463353 0.00001
NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala) rs863225428
NM_014846.4(WASHC5):c.1368del (p.Ser458fs)
NM_014846.4(WASHC5):c.1424G>A (p.Trp475Ter) rs1030054011
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) rs1554593901
NM_014846.4(WASHC5):c.1772C>T (p.Ser591Phe) rs1554593899
NM_014846.4(WASHC5):c.1857G>C (p.Leu619Phe) rs80338866
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe) rs80338867
NM_014846.4(WASHC5):c.2438_2439del (p.Pro813fs)
NM_014846.4(WASHC5):c.2595_2599del (p.Gln865fs)
NM_014846.4(WASHC5):c.3024_3025del (p.Leu1009fs) rs765926045
NM_014846.4(WASHC5):c.3335+2T>A rs398123007
NM_014846.4(WASHC5):c.633T>G (p.Tyr211Ter)
NM_014846.4(WASHC5):c.704dup (p.Tyr235Ter) rs1563633906
NM_014846.4(WASHC5):c.913G>T (p.Glu305Ter) rs377540152
NM_020134.4(DPYSL5):c.121G>A (p.Glu41Lys) rs866373727
NM_020134.4(DPYSL5):c.139G>A (p.Gly47Arg) rs1558337060
NM_020314.7(VPS35L):c.2488G>A (p.Ala830Thr) rs747119819
NM_020314.7(VPS35L):c.830dup (p.Cys277fs) rs1972596669

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