ClinVar Miner

List of variants in gene PTCH1 reported as benign by GeneDx

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Gene type:
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Total variants: 20
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HGVS dbSNP
NC_000009.12:g.95517088T>A
NM_001083602.2(PTCH1):c.1150-136C>T
NM_001083602.2(PTCH1):c.197-172T>C
NM_001083602.2(PTCH1):c.197-231T>C
NM_001083602.2(PTCH1):c.197-276_197-275insT
NM_001083602.2(PTCH1):c.2739C>T (p.Asn913=) rs58629309
NM_001083602.2(PTCH1):c.2952C>T (p.Pro984=) rs149398794
NM_001083602.2(PTCH1):c.3189C>T (p.Gly1063=) rs28446339
NM_001083602.2(PTCH1):c.3251+129A>G
NM_001083602.2(PTCH1):c.3385A>T (p.Thr1129Ser) rs2236405
NM_001083602.2(PTCH1):c.3408C>T (p.Pro1136=) rs138240178
NM_001083602.2(PTCH1):c.3607-197T>A
NM_001083602.2(PTCH1):c.386+177G>A
NM_001083602.2(PTCH1):c.3930C>T (p.Ser1310=) rs142148876
NM_001083602.2(PTCH1):c.4-1654G>C rs199976372
NM_001083602.2(PTCH1):c.4-75_4-58dup
NM_001083602.2(PTCH1):c.4127G>A (p.Arg1376Gln) rs56023271
NM_001083602.2(PTCH1):c.549-114C>T
NM_001083602.2(PTCH1):c.869+139T>C
NM_001083603.1(PTCH1):c.163G>C (p.Asp55His) rs73527759

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