List of variants in gene PTCHD1 reported as likely pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_173495.3(PTCHD1):c.1433dup (p.Tyr478Ter)	rs1555912699
NM_173495.3(PTCHD1):c.1547T>A (p.Leu516Ter)	rs886041610
NM_173495.3(PTCHD1):c.1575dup (p.Ser526fs)	rs1601918200
NM_173495.3(PTCHD1):c.1878del (p.Gln627fs)	rs1555912737
NM_173495.3(PTCHD1):c.1969_1972del (p.Asn657fs)	rs1057517808
NM_173495.3(PTCHD1):c.2132TCT[2] (p.Phe713del)
NM_173495.3(PTCHD1):c.2401_2402del (p.Ser801fs)
NM_173495.3(PTCHD1):c.2582dup (p.Asn861fs)	rs2518767828
NM_173495.3(PTCHD1):c.2T>C (p.Met1Thr)	rs1064796945

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