ClinVar Miner

List of variants in gene DYNC1H1 studied for multiple congenital anomalies/dysmorphic syndrome

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.10357G>A (p.Val3453Ile) rs778115137 0.00002
NM_001376.5(DYNC1H1):c.12600G>T (p.Gly4200=) rs1595633027 0.00001

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