ClinVar Miner

List of variants reported as likely pathogenic for congenital limb malformation by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter) rs760768475 0.00003
NM_017837.4(PIGV):c.607C>T (p.Arg203Cys) rs149690056 0.00001
NM_001374353.1(GLI2):c.3625C>T (p.Arg1209Ter) rs1683184865
NM_001378183.1(PIEZO2):c.1741G>T (p.Gly581Ter) rs990982191
NM_001429.4(EP300):c.3135_3138del (p.Lys1046fs) rs2059051273
NM_002334.4(LRP4):c.1894C>T (p.Arg632Cys) rs1941393359
NM_002334.4(LRP4):c.3472C>T (p.Arg1158Trp) rs886048351
NM_002653.5(PITX1):c.87del (p.Ala30fs) rs2149562896
NM_004247.4:c.(350+1_351-1)_(492+1_493-1)del
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr) rs1596839714
NM_004380.3(CREBBP):c.4991G>T (p.Arg1664Leu) rs1596791996
NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg) rs2051906390
NM_004826.4(ECEL1):c.1253G>A (p.Arg418His)
NM_004826.4(ECEL1):c.1531G>A (p.Gly511Ser)
NM_005445.4(SMC3):c.3007C>T (p.Arg1003Cys) rs1861395935
NM_005445.4(SMC3):c.3373C>G (p.Leu1125Val) rs901512521
NM_005445.4(SMC3):c.707G>A (p.Arg236His)
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter) rs2075652085
NM_014489.4(PGAP2):c.146C>T (p.Thr49Ile)
NM_014489.4(PGAP2):c.737G>T (p.Arg246Leu)
NM_020436.5(SALL4):c.131-2del rs1568866374
NM_020639.3(RIPK4):c.722G>A (p.Arg241His) rs891831110
NM_153717.3(EVC):c.801+1G>T
NM_181789.4(GLDN):c.1423G>C (p.Ala475Pro) rs764239923

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