ClinVar Miner

List of variants in gene BMPR1A reported by Wendy Chung Laboratory, Columbia University Medical Center

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_004329.3(BMPR1A):c.961C>T (p.Leu321=) rs377412651 0.00011
NM_004329.3(BMPR1A):c.1498A>G (p.Met500Val) rs376651641 0.00004
NM_004329.3(BMPR1A):c.1128del (p.Cys377fs) rs2133593822
NM_004329.3(BMPR1A):c.1141dup (p.Leu381fs) rs2133593957
NM_004329.3(BMPR1A):c.1172C>A (p.Thr391Lys) rs1589292560
NM_004329.3(BMPR1A):c.117del (p.Asp40fs) rs2133394844
NM_004329.3(BMPR1A):c.118dup (p.Asp40fs) rs2133394924
NM_004329.3(BMPR1A):c.1191_1192del (p.Leu398fs) rs2133606112
NM_004329.3(BMPR1A):c.1197del (p.Asn399fs) rs2133606200
NM_004329.3(BMPR1A):c.1233_1236dup (p.Leu413fs) rs2133606816
NM_004329.3(BMPR1A):c.1250_1253del (p.Leu417fs) rs2133607230
NM_004329.3(BMPR1A):c.137dup (p.Asn46fs) rs2133395223
NM_004329.3(BMPR1A):c.1450T>C (p.Ser484Pro) rs1554891611
NM_004329.3(BMPR1A):c.1468G>A (p.Asp490Asn) rs2133622472
NM_004329.3(BMPR1A):c.1549del (p.Ile517fs) rs2133625142
NM_004329.3(BMPR1A):c.165dup (p.Pro57fs) rs2133395676
NM_004329.3(BMPR1A):c.199dup (p.Cys67fs) rs2133396260
NM_004329.3(BMPR1A):c.201T>G (p.Cys67Trp) rs1843127956
NM_004329.3(BMPR1A):c.203del (p.Pro68fs) rs2133396343
NM_004329.3(BMPR1A):c.211G>A (p.Ala71Thr) rs1589763471
NM_004329.3(BMPR1A):c.211del (p.Ala71fs) rs2133396549
NM_004329.3(BMPR1A):c.258del (p.Ile86fs) rs2133408025
NM_004329.3(BMPR1A):c.277dup (p.Glu93fs) rs2133408360
NM_004329.3(BMPR1A):c.279_280del (p.Glu93fs) rs2133408386
NM_004329.3(BMPR1A):c.345del (p.Ala116fs) rs2133453304
NM_004329.3(BMPR1A):c.452_453del (p.Ile151fs) rs2133456350
NM_004329.3(BMPR1A):c.524del (p.Cys175fs) rs2133457979
NM_004329.3(BMPR1A):c.53_64del (p.Ile18_Gln22delinsLys) rs2133321799
NM_004329.3(BMPR1A):c.544_545del (p.Ser182fs) rs2133543741
NM_004329.3(BMPR1A):c.688A>T (p.Ile230Phe) rs730881433
NM_004329.3(BMPR1A):c.689_690del (p.Ile230fs) rs2133574639
NM_004329.3(BMPR1A):c.697del (p.Gln233fs) rs2133574820
NM_004329.3(BMPR1A):c.712C>T (p.Arg238Trp) rs747728399
NM_004329.3(BMPR1A):c.7del (p.Gln3fs) rs2133321013
NM_004329.3(BMPR1A):c.835dup (p.Gln279fs) rs2133577380
NM_004329.3(BMPR1A):c.862dup (p.Ile288fs) rs2133577795
NM_004329.3(BMPR1A):c.872dup (p.Ile292fs) rs2133588875
NM_004329.3(BMPR1A):c.893G>A (p.Gly298Asp) rs2133589292
NM_004329.3(BMPR1A):c.894_895dup (p.Thr299fs) rs2133589338
NM_004329.3(BMPR1A):c.918_921del (p.Leu305_Tyr306insTer) rs2133589848
NM_004329.3(BMPR1A):c.942_943insA (p.Gly315fs) rs2133590212
NM_004329.3(BMPR1A):c.969dup (p.Ala324fs) rs2133590855
NM_004329.3(BMPR1A):c.994C>T (p.Leu332Phe) rs2133591377

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