ClinVar Miner

List of variants studied for mitral valve prolapse, myxomatous 2

Included ClinVar conditions (2):
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_003737.4(DCHS1):c.3481+9A>T rs141566818 0.00057
NM_003737.4(DCHS1):c.7538G>A (p.Arg2513His) rs201457110 0.00019
NM_003737.4(DCHS1):c.8302C>T (p.Arg2768Cys) rs368211314 0.00019
NM_003737.4(DCHS1):c.6415C>T (p.Arg2139Trp) rs145429962 0.00006
NM_003737.4(DCHS1):c.6988C>T (p.Arg2330Cys) rs768737101 0.00003
NM_003737.4(DCHS1):c.6599A>C (p.Gln2200Pro) rs1030713981 0.00002
NM_003737.4(DCHS1):c.8449G>C (p.Ala2817Pro) rs909978688 0.00002
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.4552C>T (p.Arg1518Trp) rs756570525
NM_003737.4(DCHS1):c.5679C>A (p.Tyr1893Ter) rs959285916
NM_003737.4(DCHS1):c.5809G>T (p.Ala1937Ser) rs766811278
NM_003737.4(DCHS1):c.5851C>A (p.Arg1951Ser)

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