List of variants in gene PTCH2 reported as uncertain significance for not provided

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_003738.5(PTCH2):c.1993C>T (p.Arg665Cys)	rs138324984	0.00051
NM_003738.5(PTCH2):c.3055G>A (p.Val1019Met)	rs11573591	0.00023
NM_003738.5(PTCH2):c.1592C>T (p.Ala531Val)	rs766965501	0.00009
NM_003738.5(PTCH2):c.2954A>G (p.Asn985Ser)	rs752127255	0.00003
NM_003738.5(PTCH2):c.3170A>G (p.His1057Arg)	rs775788908	0.00003
NM_003738.5(PTCH2):c.2662G>A (p.Asp888Asn)	rs745445438	0.00002
NM_003738.5(PTCH2):c.124G>T (p.Gly42Cys)	rs775263591	0.00001
NM_003738.5(PTCH2):c.1573C>T (p.Arg525Ter)	rs1342270028	0.00001
NM_003738.5(PTCH2):c.1720G>T (p.Ala574Ser)	rs779477101	0.00001
NM_003738.5(PTCH2):c.617C>T (p.Pro206Leu)	rs1335376477	0.00001
NM_003738.5(PTCH2):c.1189del (p.Arg397fs)	rs778199787
NM_003738.5(PTCH2):c.1326del (p.Leu443fs)	rs755069524
NM_003738.5(PTCH2):c.2692C>G (p.Arg898Gly)	rs759692145
NM_003738.5(PTCH2):c.3505del (p.Leu1169fs)	rs763413121
NM_003738.5(PTCH2):c.3505dup (p.Leu1169fs)
NM_003738.5(PTCH2):c.3590del (p.Gly1197fs)

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