ClinVar Miner

List of variants in gene PTCH1 reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 6
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NM_001083602.2(PTCH1):c.1305G>A (p.Gln435=) rs1085307511
NM_001083602.2(PTCH1):c.1306-1G>C rs1057518400
NM_001083602.2(PTCH1):c.2971-1G>A rs1060502285
NM_001083602.2(PTCH1):c.366_371del (p.His123_Val124del) rs1554702032
NM_001083602.2(PTCH1):c.4-1655dup rs751977093
NM_001083602.2(PTCH1):c.747+3_747+6del rs1064795637

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