ClinVar Miner

List of variants reported as uncertain significance for Gorlin syndrome; Holoprosencephaly 7

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000264.5(PTCH1):c.2560+6A>G	rs1414242958	0.00001
NM_000264.5(PTCH1):c.842T>C (p.Met281Thr)	rs1564055682
NM_001083603.3(PTCH1):c.4del (p.Glu2fs)	rs752765582

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