ClinVar Miner

List of variants reported as pathogenic for Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Spondylocarpotarsal synostosis syndrome by Clinical Genetics Group, University of Otago

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002470.4(MYH3):c.-9+1G>A rs557849165 0.00117
NM_002470.4(MYH3):c.1581+1G>A rs1350968647 0.00001
NM_002470.4(MYH3):c.1411-391_1411-219del rs1567558314
NM_002470.4(MYH3):c.141T>G (p.Tyr47Ter) rs1567564042
NM_002470.4(MYH3):c.1986_1990del (p.Asn662fs) rs771300756
NM_002470.4(MYH3):c.4647+1G>A rs1567552713

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