List of variants in gene PTCHD1 reported as uncertain significance for Inborn genetic diseases

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_173495.3(PTCHD1):c.2508T>A (p.Phe836Leu)	rs139453757	0.00025
NM_173495.3(PTCHD1):c.1110C>G (p.Asp370Glu)	rs369968343	0.00011
NM_173495.3(PTCHD1):c.714A>T (p.Arg238Ser)	rs765424375	0.00002
NM_173495.3(PTCHD1):c.836T>C (p.Val279Ala)	rs969176888	0.00002
NM_173495.3(PTCHD1):c.115C>T (p.Leu39Phe)	rs763356514	0.00001
NM_173495.3(PTCHD1):c.817G>T (p.Val273Phe)	rs762133513	0.00001
NM_173495.3(PTCHD1):c.1315A>G (p.Ile439Val)
NM_173495.3(PTCHD1):c.1364C>T (p.Ala455Val)
NM_173495.3(PTCHD1):c.1432T>C (p.Tyr478His)
NM_173495.3(PTCHD1):c.143T>C (p.Val48Ala)
NM_173495.3(PTCHD1):c.1582C>T (p.Leu528Phe)	rs992351585
NM_173495.3(PTCHD1):c.1592T>C (p.Ile531Thr)
NM_173495.3(PTCHD1):c.1706C>G (p.Thr569Ser)
NM_173495.3(PTCHD1):c.1787G>A (p.Arg596Gln)
NM_173495.3(PTCHD1):c.1832A>G (p.Asp611Gly)
NM_173495.3(PTCHD1):c.1987G>A (p.Asp663Asn)
NM_173495.3(PTCHD1):c.1987G>C (p.Asp663His)
NM_173495.3(PTCHD1):c.2038A>T (p.Ile680Phe)
NM_173495.3(PTCHD1):c.2173G>A (p.Val725Ile)
NM_173495.3(PTCHD1):c.226G>T (p.Val76Phe)
NM_173495.3(PTCHD1):c.230A>G (p.Asn77Ser)
NM_173495.3(PTCHD1):c.2502CTT[1] (p.Phe836del)	rs1922904922
NM_173495.3(PTCHD1):c.358G>A (p.Ala120Thr)
NM_173495.3(PTCHD1):c.580G>A (p.Gly194Ser)
NM_173495.3(PTCHD1):c.604C>G (p.Arg202Gly)
NM_173495.3(PTCHD1):c.751C>T (p.Pro251Ser)
NM_173495.3(PTCHD1):c.79TTC[1] (p.Phe28del)

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