ClinVar Miner

List of variants in gene DYNC2H1 studied for Short-rib polydactyly syndrome type I

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Total variants: 5
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NM_001377.3(DYNC2H1):c.12642_12643insT (p.Ile4215fs) rs756811136
NM_001377.3(DYNC2H1):c.7268C>A (p.Ser2423Tyr) rs1555062340
NM_001377.3(DYNC2H1):c.7409C>G (p.Ala2470Gly) rs1555062849
NM_001377.3(DYNC2H1):c.7967G>T (p.Arg2656Leu) rs200614421
NM_001377.3(DYNC2H1):c.7984C>T (p.Arg2662Trp) rs964711006

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