ClinVar Miner

List of variants in gene PTCH2 studied for Mobius syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_003738.4(PTCH2):c.1156A>T (p.Ile386Phe) rs775127172
NM_003738.4(PTCH2):c.2018G>T (p.Arg673Leu) rs760548568

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