List of variants in gene PCCA reported by Eurofins NTD LLC (GA)

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: 24

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HGVS	dbSNP	gnomAD frequency
NM_000282.4(PCCA):c.914+19A>G	rs4306370	0.92464
NM_000282.4(PCCA):c.1644-31A>G	rs9518061	0.66246
NM_000282.4(PCCA):c.627A>G (p.Ala209=)	rs538229	0.14245
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val)	rs35719359	0.04130
NM_000282.4(PCCA):c.1429+7A>G	rs16957276	0.01356
NM_000282.4(PCCA):c.2119-43T>C	rs150390822	0.00754
NM_000282.4(PCCA):c.1284+16G>A	rs113610934	0.00169
NM_000282.4(PCCA):c.300+20G>T	rs371217257	0.00012
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)	rs774738181	0.00003
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)	rs138149179	0.00003
NM_000282.4(PCCA):c.232-1G>A	rs794727620	0.00002
NM_000282.4(PCCA):c.775_779del (p.Leu259fs)	rs794726976	0.00002
NM_000282.4(PCCA):c.1747-3C>G	rs1555455109	0.00001
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter)	rs776496862	0.00001
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro)	rs794727479	0.00001
NM_000282.4(PCCA):c.1023dup (p.Lys342Ter)	rs398123297
NM_000282.4(PCCA):c.1136G>T (p.Gly379Val)	rs794727087
NM_000282.4(PCCA):c.1561_1566delinsTATTGCCAATAACC (p.Glu521_Lys522delinsTyrCysGlnTer)	rs1555425572
NM_000282.4(PCCA):c.184-17_184-16del	rs111778723
NM_000282.4(PCCA):c.1899+4_1899+7del	rs794727334
NM_000282.4(PCCA):c.2118+1G>A	rs886043045
NM_000282.4(PCCA):c.231+47_231+50del	rs147037340
NM_000282.4(PCCA):c.686T>A (p.Met229Lys)	rs375628794
NM_000282.4(PCCA):c.947T>G (p.Met316Arg)	rs137861347

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