List of variants studied for congenital mitral valve insufficiency and/or stenosis by Baylor Genetics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_003737.4(DCHS1):c.6415C>T (p.Arg2139Trp)	rs145429962	0.00006
NM_003737.4(DCHS1):c.1442C>A (p.Pro481His)	rs1209666427	0.00001
NM_003737.4(DCHS1):c.3785A>T (p.Glu1262Val)	rs371379877	0.00001
NM_003737.4(DCHS1):c.4798G>T (p.Ala1600Ser)	rs1019051197	0.00001
NM_003737.4(DCHS1):c.6209G>T (p.Arg2070Leu)	rs773052564	0.00001
NM_003737.4(DCHS1):c.994G>A (p.Val332Met)	rs1413559157	0.00001
NM_003737.4(DCHS1):c.1330G>T (p.Ala444Ser)
NM_003737.4(DCHS1):c.3416G>C (p.Arg1139Pro)	rs777617608
NM_003737.4(DCHS1):c.5679C>A (p.Tyr1893Ter)	rs959285916
NM_003737.4(DCHS1):c.5809G>T (p.Ala1937Ser)	rs766811278

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