ClinVar Miner

List of variants in gene SMAD6 reported as uncertain significance for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_005585.5(SMAD6):c.560C>T (p.Ser187Leu) rs1359442505 0.00001
NM_005585.5(SMAD6):c.572T>C (p.Leu191Pro) rs1213841516 0.00001
NM_005585.5(SMAD6):c.800G>A (p.Ser267Asn) rs1396117157 0.00001
NM_005585.5(SMAD6):c.1016A>C (p.His339Pro) rs142278375
NM_005585.5(SMAD6):c.1050C>G (p.Tyr350Ter) rs200493039
NM_005585.5(SMAD6):c.1109A>G (p.Gln370Arg) rs1567115899
NM_005585.5(SMAD6):c.1304_1313dup (p.Phe439fs) rs1595805211
NM_005585.5(SMAD6):c.1339C>T (p.Gln447Ter) rs1595805270
NM_005585.5(SMAD6):c.1412G>A (p.Gly471Asp) rs1595805424
NM_005585.5(SMAD6):c.1460G>T (p.Trp487Leu) rs1894576455
NM_005585.5(SMAD6):c.442del (p.Ala148fs) rs1595756920
NM_005585.5(SMAD6):c.452_458del (p.Glu151fs) rs1595756941
NM_005585.5(SMAD6):c.465_471del (p.Gly156fs) rs958818801
NM_005585.5(SMAD6):c.613T>A (p.Cys205Ser) rs1595757271
NM_005585.5(SMAD6):c.649G>C (p.Gly217Arg) rs1222990058
NM_005585.5(SMAD6):c.779G>A (p.Cys260Tyr) rs1893051090
NM_005585.5(SMAD6):c.793C>T (p.His265Tyr) rs1555434295
NM_005585.5(SMAD6):c.837C>G (p.Tyr279Ter) rs1595763070
NM_005585.5(SMAD6):c.89_100dup (p.Gly30_Gly33dup) rs1473812330
NM_005585.5(SMAD6):c.900C>A (p.Tyr300Ter) rs767259025
NM_005585.5(SMAD6):c.995G>T (p.Cys332Phe) rs1245654025

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