List of variants in gene PTCH2 studied for not specified

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_003738.5(PTCH2):c.2127C>T (p.Asp709=)	rs11573587	0.01447
NM_003738.5(PTCH2):c.1073G>A (p.Arg358His)	rs139624405	0.00701
NM_003738.5(PTCH2):c.1080G>T (p.Val360=)	rs11573579	0.00649
NM_003738.5(PTCH2):c.840T>C (p.Ser280=)	rs147627670	0.00534
NM_003738.5(PTCH2):c.3210G>C (p.Leu1070Phe)	rs138220875	0.00004
NM_003738.5(PTCH2):c.1081C>T (p.Gln361Ter)	rs757205202	0.00002
NM_003738.5(PTCH2):c.1783C>T (p.His595Tyr)	rs199563590	0.00002
NM_003738.5(PTCH2):c.70C>G (p.Gln24Glu)	rs1038343665	0.00002
NM_003738.5(PTCH2):c.1031G>T (p.Ser344Ile)
NM_003738.5(PTCH2):c.1864C>A (p.His622Asn)	rs11573586
NM_003738.5(PTCH2):c.1864C>T (p.His622Tyr)	rs11573586
NM_003738.5(PTCH2):c.2427G>C (p.Ser809=)	rs111471526
NM_003738.5(PTCH2):c.2900_2917dup (p.Leu972_Val973insAlaValCysIleLeuLeu)
NM_003738.5(PTCH2):c.3358G>A (p.Val1120Met)	rs2148871335
NM_003738.5(PTCH2):c.618-6C>A	rs924268501

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