ClinVar Miner

List of variants in gene LOC100507346, PTCH1 studied for BCC1

Included ClinVar conditions (3):

BCC1; Capillary malformation-arteriovenous malformation 1
BCC1; Gorlin syndrome; Holoprosencephaly 7
BCC1; Gorlin syndrome; Medulloblastoma

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP
NM_000264.5(PTCH1):c.1989G>C (p.Gln663His)	rs753002023
NM_000264.5(PTCH1):c.2287G>T (p.Val763Phe)	rs544963328
NM_000264.5(PTCH1):c.2440A>C (p.Asn814His)	rs754623561

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