ClinVar Miner

List of variants studied for congenital limb malformation by Institute of Human Genetics, Cologne University

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
NM_139284.3(LGI4):c.1153C>T (p.Gln385Ter) rs1366269616 0.00001
NM_000135.4(FANCA):c.1367T>C (p.Phe456Ser)
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter) rs1060501880
NM_001378183.1(PIEZO2):c.1550_1552delinsCGAA (p.Ser517fs) rs1057519426
NM_001378183.1(PIEZO2):c.2360T>G (p.Leu787Arg)
NM_002470.4(MYH3):c.2305G>A (p.Gly769Ser) rs2142400628
NM_002968.3(SALL1):c.2129del (p.Ile710fs) rs2143442678
NM_004247.4(EFTUD2):c.1649T>A (p.Val550Asp) rs2145461096
NM_004247.4(EFTUD2):c.1742del (p.Lys581fs) rs1597795170
NM_004826.4(ECEL1):c.1990-3C>G rs1229171141
NM_004826.4(ECEL1):c.1A>G (p.Met1Val) rs1356994386
NM_005199.5(CHRNG):c.1210C>T (p.Gln404Ter) rs1553578312
NM_014489.4(PGAP2):c.1A>G (p.Met1Val) rs1409597701
NM_014489.4(PGAP2):c.380C>T (p.Ala127Val) rs752346360
NM_133433.4(NIPBL):c.3923C>A (p.Ala1308Glu) rs1170839204
NM_139284.3(LGI4):c.200T>G (p.Leu67Arg) rs1555734932
NM_173660.5(DOK7):c.455G>A (p.Trp152Ter) rs150376433

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