List of variants reported as pathogenic for contractures, pterygia, and variable skeletal fusions syndrome

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Total variants: 18

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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.2170C>T (p.Arg724Ter)	rs763239874	0.00001
NM_002470.4(MYH3):c.1141+131_3256del
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.2045C>A (p.Pro682Gln)	rs2142402072
NM_002470.4(MYH3):c.2103G>C (p.Glu701Asp)	rs2142401800
NM_002470.4(MYH3):c.2501T>C (p.Phe834Ser)	rs2142400070
NM_002470.4(MYH3):c.3214_3216dup (p.Asn1072dup)	rs878853126
NM_002470.4(MYH3):c.3224A>C (p.Gln1075Pro)	rs796051884
NM_002470.4(MYH3):c.4031T>C (p.Leu1344Pro)	rs1567553806
NM_002470.4(MYH3):c.4111C>T (p.Gln1371Ter)
NM_002470.4(MYH3):c.4647+1G>A	rs1567552713
NM_002470.4(MYH3):c.724TCC[1] (p.Ser243del)	rs1555527166
NM_002470.4(MYH3):c.859T>G (p.Phe287Val)	rs1567560080
NM_002470.4(MYH3):c.998C>G (p.Thr333Arg)	rs1567559562

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