ClinVar Miner

List of variants in gene PTCH1 studied for Basal cell carcinoma, multiple; Gorlin syndrome; Holoprosencephaly 7

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Total variants: 18
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NM_000264.4(PTCH1):c.1138G>A (p.Glu380Lys) rs772903899
NM_000264.4(PTCH1):c.181G>A (p.Ala61Thr) rs150069331
NM_000264.4(PTCH1):c.2635G>A (p.Asp879Asn) rs750373573
NM_000264.4(PTCH1):c.2671G>A (p.Gly891Ser) rs570091335
NM_000264.4(PTCH1):c.3575G>A (p.Arg1192His) rs762040036
NM_000264.4(PTCH1):c.3734A>G (p.Gln1245Arg) rs767792734
NM_000264.4(PTCH1):c.37C>G (p.Arg13Gly) rs779791579
NM_000264.4(PTCH1):c.3908G>T (p.Arg1303Leu) rs779365332
NM_000264.4(PTCH1):c.3919C>T (p.Pro1307Ser) rs574880967
NM_000264.4(PTCH1):c.4024C>T (p.Arg1342Cys) rs781539921
NM_000264.4(PTCH1):c.4043A>G (p.Asn1348Ser) rs371943557
NM_000264.4(PTCH1):c.4049G>A (p.Arg1350Gln)
NM_000264.4(PTCH1):c.4051A>G (p.Asn1351Asp) rs786204103
NM_000264.4(PTCH1):c.412C>T (p.Arg138Cys) rs139535966
NM_000264.4(PTCH1):c.4138G>A (p.Ala1380Thr)
NM_000264.4(PTCH1):c.4162G>A (p.Gly1388Arg) rs587778631
NM_000264.4(PTCH1):c.901G>A (p.Asp301Asn) rs767601899
NM_000264.4(PTCH1):c.949C>T (p.Leu317Phe)

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