ClinVar Miner

List of variants reported as pathogenic for congenital limb malformation by Daryl Scott Lab, Baylor College of Medicine

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721 0.00004
NM_001018115.3(FANCD2):c.2605+1G>A rs142365855 0.00003
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter) rs375656231 0.00001
NM_005199.5(CHRNG):c.136C>T (p.Arg46Ter) rs121912672 0.00001
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro) rs28897743
NM_001374353.1(GLI2):c.3523C>T (p.Gln1175Ter)
NM_001429.4(EP300):c.2225del (p.Pro742fs) rs2059021664
NM_001429.4(EP300):c.2660C>T (p.Thr887Ile) rs953108559
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_004247.4(EFTUD2):c.2199G>A (p.Trp733Ter) rs2145438293
NM_004247.4(EFTUD2):c.593dup (p.Tyr198Ter)
NM_004380.3(CREBBP):c.2436_2437insGCTG (p.Pro813fs) rs2141214738
NM_004380.3(CREBBP):c.3779+1G>A rs587783483
NM_004380.3(CREBBP):c.5790dup (p.Thr1931fs) rs1596786512
NM_004380.3(CREBBP):c.5991del (p.Pro1997_Val1998insTer)
NM_006306.4(SMC1A):c.1114-2A>G rs1569358628
NM_016653.3(MAP3K20):c.1592C>A (p.Ser531Ter) rs3769148
NM_020436.5(SALL4):c.1068del (p.Lys357fs) rs2122964551
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695

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