ClinVar Miner

List of variants studied for Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71

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Total variants: 17
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NM_015662.3(IFT172):c.1426G>A (p.Gly476Ser) rs147303046
NM_015662.3(IFT172):c.2015G>A (p.Arg672Gln)
NM_015662.3(IFT172):c.2036C>T (p.Thr679Ile)
NM_015662.3(IFT172):c.2204C>A (p.Ala735Asp) rs773174861
NM_015662.3(IFT172):c.247A>G (p.Ile83Val)
NM_015662.3(IFT172):c.2597A>G (p.Gln866Arg) rs139229844
NM_015662.3(IFT172):c.2723G>A (p.Arg908Gln) rs61747073
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter) rs750338419
NM_015662.3(IFT172):c.2770T>G (p.Ser924Ala) rs142409945
NM_015662.3(IFT172):c.4147G>A (p.Glu1383Lys) rs147668131
NM_015662.3(IFT172):c.4209G>C (p.Gln1403His)
NM_015662.3(IFT172):c.449G>C (p.Gly150Ala)
NM_015662.3(IFT172):c.4648G>A (p.Val1550Ile) rs779801761
NM_015662.3(IFT172):c.4677G>C (p.Arg1559Ser)
NM_015662.3(IFT172):c.5059C>T (p.Leu1687Phe) rs917873749
NM_015662.3(IFT172):c.673G>C (p.Glu225Gln) rs767999703
NM_015662.3(IFT172):c.811C>T (p.Arg271Ter) rs1250676888

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