ClinVar Miner

List of variants in gene TGFBR1 reported as likely pathogenic for not provided

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_004612.4(TGFBR1):c.1425G>T (p.Trp475Cys) rs767589799 0.00001
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636 0.00001
NM_004612.4(TGFBR1):c.1052A>C (p.Asp351Ala) rs863223822
NM_004612.4(TGFBR1):c.1307C>T (p.Pro436Leu) rs1131691342
NM_004612.4(TGFBR1):c.1420T>C (p.Cys474Arg) rs759805984
NM_004612.4(TGFBR1):c.1448T>G (p.Leu483Arg) rs2118857318
NM_004612.4(TGFBR1):c.1460G>T (p.Arg487Leu) rs113605875
NM_004612.4(TGFBR1):c.641G>A (p.Gly214Asp)
NM_004612.4(TGFBR1):c.671G>T (p.Trp224Leu) rs1827486281
NM_004612.4(TGFBR1):c.679G>A (p.Glu227Lys) rs1060502042
NM_004612.4(TGFBR1):c.680A>T (p.Glu227Val) rs772339721
NM_004612.4(TGFBR1):c.696G>C (p.Lys232Asn) rs863223811
NM_004612.4(TGFBR1):c.707C>T (p.Ser236Phe) rs863223812
NM_004612.4(TGFBR1):c.724T>C (p.Trp242Arg) rs863223814
NM_004612.4(TGFBR1):c.733G>A (p.Glu245Lys) rs1057524497
NM_004612.4(TGFBR1):c.758T>C (p.Met253Thr) rs863223815
NM_004612.4(TGFBR1):c.820A>G (p.Thr274Ala) rs863223816
NM_004612.4(TGFBR1):c.824A>G (p.Gln275Arg) rs863223817
NM_004612.4(TGFBR1):c.844T>G (p.Tyr282Asp) rs755827803
NM_004612.4(TGFBR1):c.974-2A>C rs1554701881

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