ClinVar Miner

List of variants in gene IFT43 studied for abdominal and pelvic region disorder

Included ClinVar conditions (956):
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Gene type:
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Total variants: 14
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HGVS dbSNP
NM_001102564.1(IFT43):c.-34G>T rs375777124
NM_052873.3(IFT43):c.*28G>A rs768577780
NM_052873.3(IFT43):c.136C>T (p.Leu46=) rs151137087
NM_052873.3(IFT43):c.148-15T>C rs183769851
NM_052873.3(IFT43):c.1A>G (p.Met1Val) rs387907107
NM_052873.3(IFT43):c.214_215+2del rs777112610
NM_052873.3(IFT43):c.21G>A (p.Leu7=) rs193921095
NM_052873.3(IFT43):c.280G>A (p.Asp94Asn) rs17783366
NM_052873.3(IFT43):c.2T>A (p.Met1Lys) rs769724508
NM_052873.3(IFT43):c.504G>A (p.Pro168=) rs148085072
NM_052873.3(IFT43):c.535T>C (p.Trp179Arg) rs1555369050
NM_052873.3(IFT43):c.73C>T (p.Arg25Ter) rs780404339
NM_052873.3(IFT43):c.8A>G (p.Asp3Gly) rs144776609
NM_052873.3(IFT43):c.92C>T (p.Ala31Val) rs147933112

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