ClinVar Miner

List of variants in gene PTCH1 studied for Inborn genetic diseases

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Total variants: 5
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HGVS dbSNP
NM_000264.4(PTCH1):c.1579C>T (p.Gln527Ter) rs1554698260
NM_000264.4(PTCH1):c.187G>T (p.Glu63Ter) rs781768965
NM_000264.4(PTCH1):c.234G>A (p.Trp78Ter) rs1554708787
NM_000264.4(PTCH1):c.3107T>A (p.Leu1036Ter) rs1554691359
NM_000264.4(PTCH1):c.4171C>T (p.Arg1391Trp) rs45535032

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