ClinVar Miner

List of variants in gene PTCH1 reported by OMIM

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Total variants: 15
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HGVS dbSNP
NM_001083602.2(PTCH1):c.189G>A (p.Trp63Ter)
NM_001083602.2(PTCH1):c.2525T>G (p.Val842Gly) rs199476093
NM_001083602.2(PTCH1):c.2957C>T (p.Thr986Met) rs138911275
NM_001083602.2(PTCH1):c.3142A>T (p.Arg1048Trp) rs587776689
NM_001083602.2(PTCH1):c.895C>T (p.Gln299Ter) rs267606984
NM_001083602.2(PTCH1):c.979G>A (p.Ala327Thr) rs199476091
PTCH1, 1-BP DEL, 2583C
PTCH1, 1-BP INS, 1247T
PTCH1, 1-BP INS, 2000C
PTCH1, 11-BP DEL, NT2442
PTCH1, 1148G-A
PTCH1, 2-BP INS, 2047CT
PTCH1, 37-BP DEL, NT808
PTCH1, 9-BP INS, CODON 815, PRO-ASN-ILE INS
PTCH1, PRO-SER, 451C-T

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