ClinVar Miner

List of variants in gene PTCH2 reported as likely benign for cranial nerve neuropathy

Included ClinVar conditions (194):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_003738.5(PTCH2):c.1156A>T (p.Ile386Phe) rs775127172
NM_003738.5(PTCH2):c.2018G>T (p.Arg673Leu) rs760548568

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