ClinVar Miner

List of variants in gene WASHC5 reported as benign for Ritscher-Schinzel syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_014846.4(WASHC5):c.1151-8G>A rs16900335
NM_014846.4(WASHC5):c.1245A>G (p.Leu415=) rs10429323
NM_014846.4(WASHC5):c.1408+7A>G rs16900312
NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=) rs34569226
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503
NM_014846.4(WASHC5):c.597A>G (p.Pro199=) rs7812319
NM_014846.4(WASHC5):c.867A>C (p.Val289=) rs79464415

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