ClinVar Miner

List of variants in gene PTCH1 reported by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.499G>A (p.Ala167Thr) rs149547604 0.00016
NM_001083603.3(PTCH1):c.157G>C (p.Glu53Gln) rs185570125 0.00005
NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn) rs750373573 0.00004
NM_000264.5(PTCH1):c.2866A>G (p.Met956Val) rs587780699 0.00003
NM_000264.5(PTCH1):c.2989A>G (p.Ile997Val) rs774440323 0.00003
NM_000264.5(PTCH1):c.209C>T (p.Ala70Val) rs764137082 0.00002
NM_000264.5(PTCH1):c.4151C>T (p.Pro1384Leu) rs146447673 0.00002
NM_000264.5(PTCH1):c.1028T>C (p.Val343Ala) rs962982192 0.00001
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu) rs757430199 0.00001
NM_000264.5(PTCH1):c.329G>C (p.Gly110Ala) rs1060502284 0.00001
NM_000264.5(PTCH1):c.3664G>A (p.Asp1222Asn) rs747181820 0.00001
NM_000264.5(PTCH1):c.395-1G>A rs368869806 0.00001
NM_000264.5(PTCH1):c.4303G>A (p.Val1435Met) rs587778632 0.00001
NM_000264.5(PTCH1):c.1234G>A (p.Ala412Thr) rs370354759
NM_000264.5(PTCH1):c.202-2A>G rs878853849
NM_000264.5(PTCH1):c.2587T>C (p.Trp863Arg) rs1839516799
NM_000264.5(PTCH1):c.3346G>A (p.Val1116Met) rs201605273
NM_000264.5(PTCH1):c.3633del (p.Gly1212fs) rs2136600953
NM_000264.5(PTCH1):c.3839C>G (p.Ser1280Trp) rs201595274
NM_000264.5(PTCH1):c.787G>A (p.Glu263Lys) rs1588610385
NM_001083603.3(PTCH1):c.166G>A (p.Asp56Asn)

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