List of variants in gene PCARE reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001029883.3(PCARE):c.2112T>C (p.Asn704=)	rs10200693	0.30236
NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=)	rs199689791	0.00417
NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=)	rs200278694	0.00371
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser)	rs187333111	0.00365
NM_001029883.3(PCARE):c.3522C>T (p.Asp1174=)	rs188815175	0.00296
NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu)	rs182248363	0.00192
NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr)	rs192350796	0.00140
NM_001029883.3(PCARE):c.2864G>A (p.Arg955Gln)	rs184249075	0.00126
NM_001029883.3(PCARE):c.403G>A (p.Glu135Lys)	rs200227182	0.00028
NM_001029883.3(PCARE):c.2190C>T (p.Ser730=)	rs369820535	0.00009
NM_001029883.3(PCARE):c.1545dup (p.Ser516fs)	rs1553354826
NM_001029883.3(PCARE):c.740T>A (p.Val247Asp)	rs77828062

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