ClinVar Miner

List of variants in gene BMPR1B reported as uncertain significance for brachydactyly type A2

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_001203.3(BMPR1B):c.769A>G (p.Asn257Asp) rs201034260 0.00014
NM_001203.3(BMPR1B):c.838G>A (p.Asp280Asn) rs551370449 0.00014
NM_001203.3(BMPR1B):c.1075A>G (p.Ser359Gly) rs201289177 0.00012
NM_001203.3(BMPR1B):c.726C>G (p.Phe242Leu) rs376819253 0.00010
NM_001203.3(BMPR1B):c.892G>A (p.Ala298Thr) rs373000965 0.00008
NM_001203.3(BMPR1B):c.1366C>T (p.Arg456Trp) rs780280883 0.00006
NM_001203.3(BMPR1B):c.580C>G (p.Leu194Val) rs757843329 0.00004
NM_001203.3(BMPR1B):c.745C>G (p.Gln249Glu) rs142696562 0.00004
NM_001203.3(BMPR1B):c.895A>G (p.Lys299Glu) rs762320529 0.00004
NM_001203.3(BMPR1B):c.734C>A (p.Thr245Lys) rs751532146 0.00002
NM_001203.3(BMPR1B):c.829C>G (p.Leu277Val) rs755942515 0.00002
NM_001203.3(BMPR1B):c.907A>C (p.Lys303Gln) rs370428276 0.00002
NM_001203.3(BMPR1B):c.1081A>G (p.Thr361Ala) rs1179983257 0.00001
NM_001203.3(BMPR1B):c.1100C>G (p.Pro367Arg) rs1284054241 0.00001
NM_001203.3(BMPR1B):c.1174T>G (p.Phe392Val) rs1464900722 0.00001
NM_001203.3(BMPR1B):c.1235G>A (p.Arg412Lys) rs561948192 0.00001
NM_001203.3(BMPR1B):c.370C>T (p.His124Tyr) rs759803347 0.00001
NM_001203.3(BMPR1B):c.391T>A (p.Ser131Thr) rs561117066 0.00001
NM_001203.3(BMPR1B):c.508A>G (p.Ile170Val) rs778170724 0.00001
NM_001203.3(BMPR1B):c.762G>T (p.Arg254Ser) rs200198618 0.00001
NM_001203.3(BMPR1B):c.80C>G (p.Pro27Arg) rs757312834 0.00001
NC_000004.11:g.(?_96069879)_(96075824_?)dup
NM_001203.3(BMPR1B):c.1012A>G (p.Ile338Val)
NM_001203.3(BMPR1B):c.1023G>C (p.Lys341Asn)
NM_001203.3(BMPR1B):c.1093G>A (p.Asp365Asn)
NM_001203.3(BMPR1B):c.1094A>G (p.Asp365Gly)
NM_001203.3(BMPR1B):c.1097T>C (p.Ile366Thr)
NM_001203.3(BMPR1B):c.1171C>T (p.His391Tyr)
NM_001203.3(BMPR1B):c.1190T>C (p.Met397Thr)
NM_001203.3(BMPR1B):c.1234A>G (p.Arg412Gly) rs1190618723
NM_001203.3(BMPR1B):c.1238G>C (p.Arg413Thr)
NM_001203.3(BMPR1B):c.1367G>T (p.Arg456Leu)
NM_001203.3(BMPR1B):c.1385G>T (p.Cys462Phe)
NM_001203.3(BMPR1B):c.1393C>T (p.Gln465Ter)
NM_001203.3(BMPR1B):c.1396A>T (p.Met466Leu)
NM_001203.3(BMPR1B):c.1400G>C (p.Gly467Ala)
NM_001203.3(BMPR1B):c.1411A>G (p.Thr471Ala) rs752827445
NM_001203.3(BMPR1B):c.247-3T>C
NM_001203.3(BMPR1B):c.247G>A (p.Asp83Asn)
NM_001203.3(BMPR1B):c.247G>C (p.Asp83His)
NM_001203.3(BMPR1B):c.247G>T (p.Asp83Tyr)
NM_001203.3(BMPR1B):c.272G>T (p.Arg91Ile)
NM_001203.3(BMPR1B):c.289A>T (p.Thr97Ser)
NM_001203.3(BMPR1B):c.419T>G (p.Val140Gly)
NM_001203.3(BMPR1B):c.425T>C (p.Ile142Thr)
NM_001203.3(BMPR1B):c.440A>G (p.Tyr147Cys)
NM_001203.3(BMPR1B):c.464C>G (p.Thr155Ser)
NM_001203.3(BMPR1B):c.470C>G (p.Pro157Arg) rs2149292391
NM_001203.3(BMPR1B):c.470C>T (p.Pro157Leu) rs2149292391
NM_001203.3(BMPR1B):c.476A>G (p.Tyr159Cys) rs1579119447
NM_001203.3(BMPR1B):c.47A>G (p.Glu16Gly)
NM_001203.3(BMPR1B):c.487T>A (p.Leu163Ile) rs1438025940
NM_001203.3(BMPR1B):c.496G>A (p.Asp166Asn)
NM_001203.3(BMPR1B):c.497A>G (p.Asp166Gly) rs781670372
NM_001203.3(BMPR1B):c.503C>G (p.Thr168Ser)
NM_001203.3(BMPR1B):c.524C>G (p.Ser175Cys)
NM_001203.3(BMPR1B):c.524C>T (p.Ser175Phe)
NM_001203.3(BMPR1B):c.527T>C (p.Leu176Pro)
NM_001203.3(BMPR1B):c.556T>A (p.Ser186Thr)
NM_001203.3(BMPR1B):c.581T>A (p.Leu194Gln)
NM_001203.3(BMPR1B):c.585+10_585+12del
NM_001203.3(BMPR1B):c.616A>G (p.Met206Val)
NM_001203.3(BMPR1B):c.621_622delinsCC (p.Lys208Gln)
NM_001203.3(BMPR1B):c.622A>G (p.Lys208Glu)
NM_001203.3(BMPR1B):c.67C>G (p.Pro23Ala)
NM_001203.3(BMPR1B):c.70A>G (p.Thr24Ala) rs754365645
NM_001203.3(BMPR1B):c.71C>T (p.Thr24Ile) rs912115035
NM_001203.3(BMPR1B):c.724T>C (p.Phe242Leu) rs761226009
NM_001203.3(BMPR1B):c.724T>G (p.Phe242Val) rs761226009
NM_001203.3(BMPR1B):c.725T>A (p.Phe242Tyr)
NM_001203.3(BMPR1B):c.725T>G (p.Phe242Cys)
NM_001203.3(BMPR1B):c.737A>C (p.Glu246Ala)
NM_001203.3(BMPR1B):c.737A>T (p.Glu246Val) rs779737736
NM_001203.3(BMPR1B):c.746A>T (p.Gln249Leu) rs187868598
NM_001203.3(BMPR1B):c.790G>T (p.Ala264Ser)
NM_001203.3(BMPR1B):c.836C>T (p.Thr279Ile)
NM_001203.3(BMPR1B):c.842A>G (p.Tyr281Cys)
NM_001203.3(BMPR1B):c.851A>C (p.Asn284Thr)
NM_001203.3(BMPR1B):c.85G>T (p.Val29Phe)
NM_001203.3(BMPR1B):c.875A>G (p.Lys292Arg)
NM_001203.3(BMPR1B):c.899C>T (p.Ser300Leu)
NM_001203.3(BMPR1B):c.928A>G (p.Ser310Gly)
NM_001203.3(BMPR1B):c.979G>A (p.Ala327Thr)
NM_001203.3(BMPR1B):c.997C>G (p.Leu333Val)

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