List of variants in gene PCCA reported as likely pathogenic 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)	rs774738181	0.00003
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del)	rs937519016	0.00001
NM_000282.4(PCCA):c.1747-3C>G	rs1555455109	0.00001
NM_000282.4(PCCA):c.437T>C (p.Leu146Pro)	rs774457925	0.00001
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)	rs1444049793	0.00001
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp)	rs761295534
NM_000282.4(PCCA):c.1209+3A>G	rs1467680142
NM_000282.4(PCCA):c.1409T>G (p.Leu470Arg)	rs2152697481
NM_000282.4(PCCA):c.2118+1G>A	rs886043045
NM_000282.4(PCCA):c.2129_2130del (p.Val710fs)	rs1317003529
NM_000282.4(PCCA):c.742G>A (p.Glu248Lys)	rs1064793224
NM_000282.4(PCCA):c.806A>G (p.His269Arg)	rs886039751
NM_000282.4(PCCA):c.947T>A (p.Met316Lys)	rs137861347
NM_000282.4(PCCA):c.947T>G (p.Met316Arg)	rs137861347

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