ClinVar Miner

List of variants reported as likely benign 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: 75
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HGVS dbSNP gnomAD frequency
NM_002473.6(MYH9):c.1108+19C>T rs78323081 0.02129
NM_002473.5(MYH9):c.-201G>A rs189394948 0.01205
NM_002473.6(MYH9):c.1108+9C>T rs145751072 0.00959
NM_002473.6(MYH9):c.2038-5T>C rs8137674 0.00874
NM_002473.6(MYH9):c.1729-6C>T rs9622375 0.00736
NM_002473.5(MYH9):c.*1394C>T rs144335048 0.00657
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu) rs56200894 0.00231
NM_002473.6(MYH9):c.165C>T (p.Ile55=) rs141948797 0.00187
NM_002473.6(MYH9):c.4952T>C (p.Met1651Thr) rs142094977 0.00165
NM_002473.6(MYH9):c.705+14C>T rs142552338 0.00139
NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu) rs145139708 0.00134
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp) rs76368635 0.00123
NM_002473.6(MYH9):c.1228-16C>T rs186815044 0.00106
NM_002473.6(MYH9):c.5010G>A (p.Glu1670=) rs76069100 0.00088
NM_002473.6(MYH9):c.5049C>A (p.Ile1683=) rs147419066 0.00086
NM_002473.6(MYH9):c.1843+14C>A rs372865551 0.00078
NM_002473.5(MYH9):c.*1399C>T rs544966086 0.00076
NM_002473.6(MYH9):c.5877C>T (p.Ala1959=) rs144179406 0.00066
NM_002473.6(MYH9):c.4344+10C>T rs200977419 0.00061
NM_002473.6(MYH9):c.4095+20C>T rs201994553 0.00056
NM_002473.6(MYH9):c.5542C>G (p.Leu1848Val) rs201174456 0.00050
NM_002473.6(MYH9):c.3485+18G>C rs200835614 0.00046
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro) rs200901330 0.00044
NM_002473.6(MYH9):c.1167C>T (p.Ile389=) rs114048959 0.00039
NM_002473.6(MYH9):c.769+15C>T rs201691359 0.00039
NM_002473.6(MYH9):c.5765+9C>T rs201008102 0.00038
NM_002473.6(MYH9):c.2500-14A>G rs199505086 0.00031
NM_002473.6(MYH9):c.3195C>A (p.Ala1065=) rs148781875 0.00029
NM_002473.6(MYH9):c.2085C>T (p.Asn695=) rs375953430 0.00022
NM_002473.6(MYH9):c.3255C>T (p.Leu1085=) rs142427583 0.00020
NM_002473.6(MYH9):c.2808G>A (p.Ala936=) rs200550959 0.00017
NM_002473.6(MYH9):c.5483+18C>T rs376924627 0.00017
NM_002473.6(MYH9):c.705+15G>A rs373901192 0.00017
NM_002473.6(MYH9):c.3246G>A (p.Glu1082=) rs147961725 0.00016
NM_002473.6(MYH9):c.2295C>T (p.Ala765=) rs150133983 0.00015
NM_002473.6(MYH9):c.132C>T (p.Ala44=) rs138526426 0.00013
NM_002473.6(MYH9):c.1212G>A (p.Ala404=) rs148832136 0.00012
NM_002473.6(MYH9):c.504A>G (p.Gln168=) rs760974197 0.00012
NM_002473.6(MYH9):c.5593-4G>A rs369769391 0.00012
NM_002473.6(MYH9):c.1012+20A>G rs748163536 0.00010
NM_002473.6(MYH9):c.2115C>T (p.Arg705=) rs372243275 0.00010
NM_002473.6(MYH9):c.4008C>T (p.Asp1336=) rs373378393 0.00009
NM_002473.6(MYH9):c.4558-11C>G rs200820677 0.00008
NM_002473.6(MYH9):c.1788C>T (p.Ile596=) rs113130911 0.00006
NM_002473.6(MYH9):c.4479G>A (p.Ala1493=) rs149271663 0.00006
NM_002473.6(MYH9):c.5456T>G (p.Leu1819Arg) rs368440234 0.00006
NM_002473.6(MYH9):c.2205C>T (p.Asp735=) rs370860479 0.00005
NM_002473.6(MYH9):c.3384T>C (p.Asn1128=) rs531623930 0.00005
NM_002473.6(MYH9):c.1686G>A (p.Leu562=) rs199506577 0.00004
NM_002473.6(MYH9):c.1728+7A>G rs201942027 0.00004
NM_002473.6(MYH9):c.2838+19C>T rs199611979 0.00004
NM_002473.6(MYH9):c.1729-5G>A rs770021950 0.00003
NM_002473.6(MYH9):c.2041G>A (p.Gly681Ser) rs145241551 0.00003
NM_002473.6(MYH9):c.233C>T (p.Pro78Leu) rs150313549 0.00003
NM_002473.6(MYH9):c.4218C>T (p.Ala1406=) rs142957635 0.00003
NM_002473.6(MYH9):c.1722C>T (p.Ala574=) rs373381680 0.00002
NM_002473.6(MYH9):c.2838+10C>T rs1027216058 0.00002
NM_002473.6(MYH9):c.2844T>G (p.Leu948=) rs763022319 0.00002
NM_002473.6(MYH9):c.3272+19C>T rs984743795 0.00002
NM_002473.6(MYH9):c.4025G>A (p.Arg1342Gln) rs758159686 0.00002
NM_002473.6(MYH9):c.1518C>T (p.Leu506=) rs745614690 0.00001
NM_002473.6(MYH9):c.2230-9C>T rs1221817075 0.00001
NM_002473.6(MYH9):c.4128T>C (p.Ser1376=) rs199506931 0.00001
NM_002473.6(MYH9):c.5235G>A (p.Thr1745=) rs727504684 0.00001
NM_002473.6(MYH9):c.720C>T (p.Arg240=) rs556214390 0.00001
NM_002473.6(MYH9):c.868+14C>T rs769515479 0.00001
NM_002473.6(MYH9):c.888G>A (p.Pro296=) rs559813309 0.00001
NM_002473.6(MYH9):c.1056C>T (p.Ile352=) rs727504861
NM_002473.6(MYH9):c.1843+12G>C rs150539764
NM_002473.6(MYH9):c.2037+14G>T rs727504713
NM_002473.6(MYH9):c.2153G>A (p.Arg718Gln) rs1464713086
NM_002473.6(MYH9):c.255C>T (p.Asp85=) rs569718443
NM_002473.6(MYH9):c.5275-10del rs552643559
NM_002473.6(MYH9):c.5593-14G>T rs201676960
NM_002473.6(MYH9):c.5764A>C (p.Arg1922=) rs1603482692

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