ClinVar Miner

List of variants in gene MYBPC1 studied for Arthrogryposis, distal, type 1B

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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_002465.4(MYBPC1):c.2544T>C (p.Ile848=) rs7139095 0.95112
NM_002465.4(MYBPC1):c.1633+33T>C rs1997204 0.94445
NM_002465.4(MYBPC1):c.2222-38T>C rs2254631 0.63203
NM_002465.4(MYBPC1):c.*78G>A rs2764 0.55606
NM_002465.4(MYBPC1):c.774C>T (p.Asp258=) rs2293468 0.29320
NM_002465.4(MYBPC1):c.1634-18del rs3835190 0.22202
NM_002465.4(MYBPC1):c.2817A>G (p.Pro939=) rs764291 0.20383
NM_002465.4(MYBPC1):c.556+10C>G rs61935677 0.20237
NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln) rs3817552 0.14585
NM_002465.4(MYBPC1):c.-75G>T rs1697477 0.13668
NM_002465.4(MYBPC1):c.1386A>T (p.Thr462=) rs825045 0.08992
NM_002465.4(MYBPC1):c.3492+39C>T rs35621105 0.03732
NM_002465.4(MYBPC1):c.2809+12T>C rs11110952 0.01947
NM_002465.4(MYBPC1):c.556+9G>A rs112788142 0.01527
NM_002465.4(MYBPC1):c.*45C>T rs73390504 0.01171
NM_002465.4(MYBPC1):c.26-9C>T rs181619118 0.00935
NM_002465.4(MYBPC1):c.2010C>T (p.Tyr670=) rs77045393 0.00802
NM_002465.4(MYBPC1):c.-93C>T rs78173516 0.00794
NM_002465.4(MYBPC1):c.608+14A>G rs4448745 0.00545
NM_002465.4(MYBPC1):c.594T>C (p.Ser198=) rs79442861 0.00543
NM_002465.4(MYBPC1):c.*169G>T rs115971493 0.00526
NM_002465.4(MYBPC1):c.-46C>T rs148011345 0.00469
NM_002465.4(MYBPC1):c.608+9A>G rs183524782 0.00428
NM_002465.4(MYBPC1):c.191T>C (p.Val64Ala) rs149213047 0.00398
NM_002465.4(MYBPC1):c.129C>T (p.Ser43=) rs138170393 0.00369
NM_002465.4(MYBPC1):c.438+9C>G rs186857045 0.00230
NM_002465.4(MYBPC1):c.420C>T (p.Thr140=) rs140667525 0.00188
NM_002465.4(MYBPC1):c.*19+3A>G rs2303628 0.00146
NM_002465.4(MYBPC1):c.-13T>C rs368264809 0.00079
NM_002465.4(MYBPC1):c.2320T>C (p.Leu774=) rs201984898 0.00059
NM_002465.4(MYBPC1):c.1457C>A (p.Pro486Gln) rs139605474 0.00046
NM_002465.4(MYBPC1):c.3402A>G (p.Thr1134=) rs149742717 0.00046
NM_002465.4(MYBPC1):c.192C>T (p.Val64=) rs143380884 0.00020
NM_002465.4(MYBPC1):c.*317C>A rs192569541 0.00014
NM_002465.4(MYBPC1):c.178+7G>A rs376040468 0.00008
NM_002465.4(MYBPC1):c.17A>T (p.Lys6Met) rs201472372 0.00008
NM_002465.4(MYBPC1):c.1553C>T (p.Ala518Val) rs150541115 0.00007
NM_002465.4(MYBPC1):c.1651C>T (p.Leu551=) rs141026830 0.00007
NM_002465.4(MYBPC1):c.2271G>A (p.Thr757=) rs764196097 0.00007
NM_002465.4(MYBPC1):c.104-10C>A rs373075518 0.00004
NM_002465.4(MYBPC1):c.2539C>T (p.Arg847Cys) rs768199021 0.00004
NM_002465.4(MYBPC1):c.1703T>C (p.Leu568Pro) rs886048831 0.00003
NM_002465.4(MYBPC1):c.2522T>C (p.Ile841Thr) rs761232017 0.00003
NM_002465.4(MYBPC1):c.309A>T (p.Ile103=) rs886048829 0.00003
NM_002465.4(MYBPC1):c.557-10C>T rs529365953 0.00003
NM_002465.4(MYBPC1):c.750C>A (p.Ile250=) rs761503353 0.00003
NM_002465.4(MYBPC1):c.2124G>A (p.Lys708=) rs146295846 0.00002
NM_002465.4(MYBPC1):c.*277T>C rs886048839 0.00001
NM_002465.4(MYBPC1):c.1423A>G (p.Ile475Val) rs200949332 0.00001
NM_002465.4(MYBPC1):c.2508C>T (p.Leu836=) rs772332498 0.00001
NM_002465.4(MYBPC1):c.2579T>C (p.Val860Ala) rs769333525 0.00001
NM_002465.4(MYBPC1):c.2776G>A (p.Val926Met) rs757883130 0.00001
NM_002465.4(MYBPC1):c.2785G>A (p.Ala929Thr) rs745325597 0.00001
NM_002465.4(MYBPC1):c.3405G>T (p.Val1135=) rs767982400 0.00001
NM_002465.4(MYBPC1):c.675G>A (p.Lys225=) rs376374877 0.00001
NM_002465.4(MYBPC1):c.706T>C (p.Trp236Arg) rs387906657 0.00001
NM_002465.4(MYBPC1):c.*144C>G rs886048836
NM_002465.4(MYBPC1):c.1399C>G (p.Gln467Glu) rs146314887
NM_002465.4(MYBPC1):c.142+10A>T rs1166293190
NM_002465.4(MYBPC1):c.2013C>T (p.Asp671=) rs149779416
NM_002465.4(MYBPC1):c.2033-9T>A rs1239597775
NM_002465.4(MYBPC1):c.2153G>A (p.Arg718His) rs556762061
NM_002465.4(MYBPC1):c.2303A>T (p.His768Leu) rs1896928927
NM_002465.4(MYBPC1):c.2439C>T (p.Ile813=) rs886048834
NM_002465.4(MYBPC1):c.2566T>C (p.Tyr856His) rs387906658
NM_002465.4(MYBPC1):c.288del (p.Gly97fs) rs778284790
NM_002465.4(MYBPC1):c.290-10C>T rs1889902104
NM_002465.4(MYBPC1):c.2908A>C (p.Ile970Leu) rs749155247
NM_002465.4(MYBPC1):c.3013G>A (p.Gly1005Arg) rs1900220711
NM_002465.4(MYBPC1):c.3224G>A (p.Cys1075Tyr) rs1566012539
NM_002465.4(MYBPC1):c.3262A>T (p.Met1088Leu) rs886048835
NM_002465.4(MYBPC1):c.793C>G (p.Arg265Gly)

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