ClinVar Miner

List of variants studied for Ritscher-Schinzel syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP
NM_014008.5(CCDC22):c.1670A>G (p.Tyr557Cys) rs863225429
NM_014008.5(CCDC22):c.197G>A (p.Arg66His)
NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala) rs863225428
NM_014846.4(WASHC5):c.1151-2A>G rs1563627853
NM_014846.4(WASHC5):c.1151-8G>A rs16900335
NM_014846.4(WASHC5):c.1178G>A (p.Arg393His)
NM_014846.4(WASHC5):c.1245A>G (p.Leu415=) rs10429323
NM_014846.4(WASHC5):c.1297T>C (p.Ser433Pro)
NM_014846.4(WASHC5):c.1408+7A>G rs16900312
NM_014846.4(WASHC5):c.1668C>T (p.Phe556=) rs199725572
NM_014846.4(WASHC5):c.166T>C (p.Phe56Leu)
NM_014846.4(WASHC5):c.1747A>G (p.Arg583Gly)
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) rs1554593901
NM_014846.4(WASHC5):c.1785G>T (p.Leu595=) rs1044612540
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe) rs80338867
NM_014846.4(WASHC5):c.1942G>A (p.Asp648Asn) rs758919422
NM_014846.4(WASHC5):c.2003G>T (p.Gly668Val)
NM_014846.4(WASHC5):c.2016+10C>G rs1260941212
NM_014846.4(WASHC5):c.2086G>A (p.Gly696Ser) rs1060502725
NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp)
NM_014846.4(WASHC5):c.2090_2092TCA[1] (p.Ile698del) rs1554593551
NM_014846.4(WASHC5):c.2158T>G (p.Phe720Val)
NM_014846.4(WASHC5):c.2422A>G (p.Ile808Val) rs144507279
NM_014846.4(WASHC5):c.2769C>T (p.Val923=)
NM_014846.4(WASHC5):c.2971A>G (p.Ile991Val) rs1554591077
NM_014846.4(WASHC5):c.3020_3021AC[2] (p.Leu1009fs) rs765926045
NM_014846.4(WASHC5):c.3047A>G (p.Tyr1016Cys)
NM_014846.4(WASHC5):c.3210G>A (p.Pro1070=) rs200733182
NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=) rs34569226
NM_014846.4(WASHC5):c.3269G>A (p.Arg1090Gln)
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503
NM_014846.4(WASHC5):c.3335+2T>A rs398123007
NM_014846.4(WASHC5):c.413T>G (p.Leu138Arg) rs1563636568
NM_014846.4(WASHC5):c.511C>T (p.Arg171Ter) rs1462319941
NM_014846.4(WASHC5):c.526C>T (p.Arg176Ter)
NM_014846.4(WASHC5):c.572G>A (p.Arg191Gln)
NM_014846.4(WASHC5):c.597A>G (p.Pro199=) rs7812319
NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu) rs72720524
NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter)
NM_014846.4(WASHC5):c.704dup (p.Tyr235Ter) rs1563633906
NM_014846.4(WASHC5):c.867A>C (p.Val289=) rs79464415
NM_014846.4(WASHC5):c.872G>A (p.Ser291Asn) rs753529606
NM_014846.4(WASHC5):c.885G>A (p.Gly295=) rs1435894101
NM_020134.4(DPYSL5):c.139G>A (p.Gly47Arg) rs1558337060

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