ClinVar Miner

List of variants studied for congenital limb malformation by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (336):
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Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003 0.00006
NM_002968.3(SALL1):c.2278C>T (p.Pro760Ser) rs140384285 0.00005
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer) rs757504102 0.00001
NM_001374353.1(GLI2):c.4075G>A (p.Glu1359Lys) rs768928173 0.00001
NM_018124.4(RFWD3):c.1367G>C (p.Cys456Ser) rs773701779 0.00001
NM_018124.4(RFWD3):c.2205G>A (p.Ser735=) rs190386378 0.00001
NM_000135.4(FANCA):c.2119A>G (p.Asn707Asp)
NM_000135.4(FANCA):c.4196C>T (p.Ala1399Val) rs1457671800
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) rs121918488
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000474.4(TWIST1):c.321dup (p.Thr108fs) rs1788583845
NM_001018113.3(FANCB):c.271C>T (p.Leu91Phe)
NM_001374353.1(GLI2):c.4325G>A (p.Gly1442Asp) rs1683230678
NM_002470.4(MYH3):c.2891A>G (p.Lys964Arg) rs2074249340
NM_002968.3(SALL1):c.1514A>G (p.His505Arg) rs776094507
NM_002968.3(SALL1):c.3847G>A (p.Glu1283Lys) rs1962320101
NM_004380.3(CREBBP):c.1237C>T (p.Arg413Ter) rs1302427305
NM_004380.3(CREBBP):c.6007C>T (p.Pro2003Ser) rs1282498604
NM_005105.5(RBM8A):c.207_208insAGCG (p.Val70fs) rs397515388
NM_018124.4(RFWD3):c.1189G>C (p.Val397Leu) rs1567572985
NM_019074.4(DLL4):c.1429G>T (p.Val477Leu)
NM_020754.4(ARHGAP31):c.1150G>A (p.Gly384Ser)

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