ClinVar Miner

List of variants in gene PTCH1 reported as likely pathogenic for not provided

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Total variants: 6
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HGVS dbSNP
NM_000264.3(PTCH1):c.945+3_945+6delGAGT rs1064795637
NM_000264.4(PTCH1):c.114dup (p.Leu39Alafs) rs751977093
NM_000264.4(PTCH1):c.1503G>A (p.Gln501=) rs1085307511
NM_000264.4(PTCH1):c.1504-1G>C rs1057518400
NM_000264.4(PTCH1):c.3169-1G>A rs1060502285
NM_000264.4(PTCH1):c.564_569delCCATGT (p.His189_Val190del) rs1554702032

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