ClinVar Miner

List of variants in gene PCCA reported by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP
NM_000282.4(PCCA):c.-4A>C
NM_000282.4(PCCA):c.1002C>T (p.Thr334=) rs150106872
NM_000282.4(PCCA):c.120T>C (p.Tyr40=)
NM_000282.4(PCCA):c.1214C>A (p.Pro405His)
NM_000282.4(PCCA):c.1275T>G (p.His425Gln)
NM_000282.4(PCCA):c.1285-1417T>C
NM_000282.4(PCCA):c.1383G>A (p.Glu461=)
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000282.4(PCCA):c.1429+7A>G rs16957276
NM_000282.4(PCCA):c.145C>T (p.Arg49Cys) rs148651921
NM_000282.4(PCCA):c.1515C>T (p.Ser505=) rs201162791
NM_000282.4(PCCA):c.1576T>C (p.Leu526=) rs564315582
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu) rs16957356
NM_000282.4(PCCA):c.1760G>C (p.Gly587Ala)
NM_000282.4(PCCA):c.1817G>C (p.Ser606Thr)
NM_000282.4(PCCA):c.184-17_184-16del rs111778723
NM_000282.4(PCCA):c.1846-9G>T rs141118743
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro) rs563417983
NM_000282.4(PCCA):c.1884G>A (p.Gln628=) rs552141237
NM_000282.4(PCCA):c.1891G>A (p.Gly631Ser)
NM_000282.4(PCCA):c.1896A>G (p.Thr632=) rs61760965
NM_000282.4(PCCA):c.1929C>T (p.Ala643=) rs772945583
NM_000282.4(PCCA):c.1953G>A (p.Leu651=)
NM_000282.4(PCCA):c.202G>A (p.Val68Ile) rs768750176
NM_000282.4(PCCA):c.2037C>T (p.Asp679=) rs146870931
NM_000282.4(PCCA):c.2040+11dup rs779884567
NM_000282.4(PCCA):c.2040+9TG[3]
NM_000282.4(PCCA):c.2055A>G (p.Gln685=) rs147568036
NM_000282.4(PCCA):c.2082A>T (p.Lys694Asn)
NM_000282.4(PCCA):c.2101G>C (p.Ala701Pro)
NM_000282.4(PCCA):c.2113G>T (p.Gly705Cys)
NM_000282.4(PCCA):c.2172C>T (p.Leu724=) rs150352833
NM_000282.4(PCCA):c.2T>C (p.Met1Thr) rs372093520
NM_000282.4(PCCA):c.328G>C (p.Val110Leu) rs150788587
NM_000282.4(PCCA):c.36C>T (p.Val12=) rs375516917
NM_000282.4(PCCA):c.370A>G (p.Met124Val)
NM_000282.4(PCCA):c.484G>A (p.Val162Ile)
NM_000282.4(PCCA):c.490A>G (p.Ile164Val) rs539693612
NM_000282.4(PCCA):c.522G>A (p.Met174Ile) rs780406346
NM_000282.4(PCCA):c.54G>A (p.Gly18=) rs1373903905
NM_000282.4(PCCA):c.551C>G (p.Ala184Gly)
NM_000282.4(PCCA):c.627A>G (p.Ala209=) rs538229
NM_000282.4(PCCA):c.645T>G (p.Pro215=) rs751840442
NM_000282.4(PCCA):c.649A>G (p.Met217Val)
NM_000282.4(PCCA):c.660C>T (p.Ala220=) rs145826296
NM_000282.4(PCCA):c.722del (p.Gly241fs) rs745571507
NM_000282.4(PCCA):c.825A>G (p.Leu275=) rs376560248
NM_000282.4(PCCA):c.870C>T (p.Cys290=) rs141174380
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793
NM_000282.4(PCCA):c.914+8T>A rs543352333
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) rs146927771
NM_000282.4(PCCA):c.929C>T (p.Ala310Val) rs146927771
NM_000282.4(PCCA):c.999G>A (p.Gly333=)

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