ClinVar Miner

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

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Total variants: 10
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NM_000264.5(PTCH1):c.114del (p.Leu39fs) rs751977093
NM_000264.5(PTCH1):c.114dup (p.Leu39fs) rs751977093
NM_000264.5(PTCH1):c.1347+1G>C rs1588602262
NM_000264.5(PTCH1):c.1503G>A (p.Gln501=) rs1085307511
NM_000264.5(PTCH1):c.1504-1G>C rs1057518400
NM_000264.5(PTCH1):c.3169-1G>A rs1060502285
NM_000264.5(PTCH1):c.3275T>A (p.Ile1092Lys) rs1588535471
NM_000264.5(PTCH1):c.564_569del (p.His189_Val190del) rs1554702032
NM_000264.5(PTCH1):c.591G>T (p.Trp197Cys)
NM_000264.5(PTCH1):c.945+3_945+6del rs1064795637

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