ClinVar Miner

List of variants reported as likely pathogenic for macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_002473.6(MYH9):c.1271G>A (p.Arg424Gln) rs1321659356 0.00001
NM_002473.6(MYH9):c.2105G>A (p.Arg702His) rs80338827 0.00001
NM_002473.6(MYH9):c.1119G>C (p.Lys373Asn) rs1603483388
NM_002473.6(MYH9):c.1184A>C (p.Lys395Thr)
NM_002473.6(MYH9):c.167_169del (p.Val56del) rs2146392922
NM_002473.6(MYH9):c.2104C>A (p.Arg702Ser) rs80338826
NM_002473.6(MYH9):c.2114G>A (p.Arg705His) rs80338828
NM_002473.6(MYH9):c.2129A>C (p.Asn710Thr) rs1364444432
NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp) rs1184544985
NM_002473.6(MYH9):c.220A>G (p.Lys74Glu) rs1603484048
NM_002473.6(MYH9):c.2482T>C (p.Trp828Arg) rs2146345102
NM_002473.6(MYH9):c.2507C>T (p.Pro836Leu) rs1603483077
NM_002473.6(MYH9):c.2668del (p.Gln890fs) rs1603483058
NM_002473.6(MYH9):c.2680G>A (p.Glu894Lys)
NM_002473.6(MYH9):c.2707C>G (p.Arg903Gly)
NM_002473.6(MYH9):c.283G>A (p.Ala95Thr) rs1603484047
NM_002473.6(MYH9):c.284C>T (p.Ala95Val) rs2146392811
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu) rs121913657
NM_002473.6(MYH9):c.3244GAG[2] (p.Glu1084del)
NM_002473.6(MYH9):c.3486G>T (p.Arg1162Ser) rs2016767710
NM_002473.6(MYH9):c.4249C>T (p.Arg1417Trp)
NM_002473.6(MYH9):c.4250G>A (p.Arg1417Gln) rs2016714761
NM_002473.6(MYH9):c.4271A>G (p.Asp1424Gly) rs867593888
NM_002473.6(MYH9):c.4272C>A (p.Asp1424Glu) rs1397006934
NM_002473.6(MYH9):c.4340A>G (p.Asp1447Gly) rs797044804
NM_002473.6(MYH9):c.4340A>T (p.Asp1447Val) rs797044804
NM_002473.6(MYH9):c.4354GAG[1] (p.Glu1453del)
NM_002473.6(MYH9):c.4546G>A (p.Val1516Met) rs727503284
NM_002473.6(MYH9):c.4712G>A (p.Arg1571Gln)
NM_002473.6(MYH9):c.5800del (p.Met1934fs) rs1603482652
NM_002473.6(MYH9):c.5808del (p.Gly1938fs) rs1603482650
NM_002473.6(MYH9):c.97T>G (p.Trp33Gly) rs1603484060

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