ClinVar Miner

List of variants in gene MYBPC3 reported as uncertain significance by Blueprint Genetics

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Gene type:
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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) rs397515922 0.00026
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851 0.00024
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr) rs397515985 0.00021
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000256.3(MYBPC3):c.1255C>T (p.Arg419Cys) rs368770848 0.00006
NM_000256.3(MYBPC3):c.3123C>T (p.Gly1041=) rs374626656 0.00005
NM_000256.3(MYBPC3):c.2179G>A (p.Val727Met) rs564378953 0.00004
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_000256.3(MYBPC3):c.3614G>A (p.Arg1205Gln) rs730880596 0.00004
NM_000256.3(MYBPC3):c.3800G>A (p.Arg1267His) rs730880142 0.00004
NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu) rs727503216 0.00004
NM_000256.3(MYBPC3):c.956A>C (p.Glu319Ala) rs545675333 0.00004
NM_000256.3(MYBPC3):c.1670G>A (p.Gly557Asp) rs730880549 0.00003
NM_000256.3(MYBPC3):c.841C>T (p.Arg281Trp) rs371711564 0.00003
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534 0.00002
NM_000256.3(MYBPC3):c.1814A>G (p.Asp605Gly) rs372371774 0.00002
NM_000256.3(MYBPC3):c.3097C>T (p.Arg1033Trp) rs748909815 0.00002
NM_000256.3(MYBPC3):c.1397T>A (p.Met466Lys) rs397515899 0.00001
NM_000256.3(MYBPC3):c.2938C>T (p.Arg980Cys) rs397515994 0.00001
NM_000256.3(MYBPC3):c.3232T>C (p.Trp1078Arg) rs773543130 0.00001
NM_000256.3(MYBPC3):c.3277G>T (p.Gly1093Cys) rs727503173 0.00001
NM_000256.3(MYBPC3):c.3331-8G>T rs770723664 0.00001
NM_000256.3(MYBPC3):c.3572C>T (p.Ser1191Leu) rs761545914 0.00001
NM_000256.3(MYBPC3):c.3673G>A (p.Ala1225Thr) rs1278226452 0.00001
NM_000256.3(MYBPC3):c.3781G>A (p.Glu1261Lys) rs730880141 0.00001
NM_000256.3(MYBPC3):c.436A>C (p.Thr146Pro) rs397516048 0.00001
NM_000256.3(MYBPC3):c.822-3C>T rs730880628 0.00001
NM_000256.3(MYBPC3):c.146_148del (p.Ile49del) rs781207661
NM_000256.3(MYBPC3):c.1502A>C (p.Tyr501Ser) rs1595846231
NM_000256.3(MYBPC3):c.1826C>T (p.Ala609Val) rs730880553
NM_000256.3(MYBPC3):c.1886T>C (p.Leu629Pro) rs730880137
NM_000256.3(MYBPC3):c.2288A>G (p.Asn763Ser) rs730880527
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2623C>T (p.His875Tyr) rs1555120949
NM_000256.3(MYBPC3):c.2959G>A (p.Val987Ile) rs1565623672
NM_000256.3(MYBPC3):c.3118T>G (p.Ser1040Ala) rs730880139
NM_000256.3(MYBPC3):c.3188T>C (p.Val1063Ala) rs988454775
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro) rs187705120
NM_000256.3(MYBPC3):c.3647A>G (p.Lys1216Arg) rs1595840860
NM_000256.3(MYBPC3):c.3812G>C (p.Arg1271Pro) rs762225417
NM_000256.3(MYBPC3):c.3815-11_3815-9del rs1329380245
NM_000256.3(MYBPC3):c.3825A>G (p.Ter1275Trp) rs727504380
NM_000256.3(MYBPC3):c.39C>G (p.Ser13Arg) rs730880136
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala) rs727505267

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