ClinVar Miner

List of variants in gene MYH9 reported as pathogenic for blood platelet disease

Included ClinVar conditions (105):
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Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_002473.6(MYH9):c.2105G>A (p.Arg702His) rs80338827 0.00001
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys) rs80338826
NM_002473.6(MYH9):c.2114G>A (p.Arg705His) rs80338828
NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp) rs1184544985
NM_002473.6(MYH9):c.228_245del (p.Asn76_Ser81del) rs2146392848
NM_002473.6(MYH9):c.2507C>T (p.Pro836Leu) rs1603483077
NM_002473.6(MYH9):c.277A>G (p.Asn93Asp)
NM_002473.6(MYH9):c.279C>G (p.Asn93Lys) rs121913655
NM_002473.6(MYH9):c.283G>A (p.Ala95Thr) rs1603484047
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu) rs121913657
NM_002473.6(MYH9):c.3195_3215del (p.Gln1068_Leu1074del) rs876661302
NM_002473.6(MYH9):c.3195_3215dup (p.Gln1068_Leu1074dup) rs876661302
NM_002473.6(MYH9):c.3464C>T (p.Thr1155Ile) rs121913656
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) rs80338829
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_002473.6(MYH9):c.4270G>C (p.Asp1424His) rs80338831
NM_002473.6(MYH9):c.4270G>T (p.Asp1424Tyr) rs80338831
NM_002473.6(MYH9):c.4546G>T (p.Val1516Leu) rs727503284
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys) rs80338834
NM_002473.6(MYH9):c.5765+2T>C
NM_002473.6(MYH9):c.5770_5779del (p.Gly1924fs) rs1603482653
NM_002473.6(MYH9):c.5773del (p.Asp1925fs) rs2146325507
NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter) rs80338835
NM_002473.6(MYH9):c.5821del (p.Asp1941fs) rs587776808
NM_002473.6(MYH9):c.97T>C (p.Trp33Arg) rs1603484060
NM_002473.6(MYH9):c.99G>C (p.Trp33Cys) rs1603484059

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