ClinVar Miner

List of variants in gene PCNT reported by OMIM

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Total variants: 12
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HGVS dbSNP
NM_006031.6(PCNT):c.1887del (p.Ala630fs) rs397509366
NM_006031.6(PCNT):c.3109G>T (p.Glu1037Ter) rs119479063
NM_006031.6(PCNT):c.3460G>T (p.Glu1154Ter) rs387906928
NM_006031.6(PCNT):c.3568dup (p.Cys1190fs) rs397514033
NM_006031.6(PCNT):c.3840G>C (p.Gln1280His) rs1569239749
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter) rs119479062
NM_006031.6(PCNT):c.658G>T (p.Glu220Ter) rs119479061
NM_006031.6(PCNT):c.8752C>T (p.Arg2918Ter) rs119479064
PCNT, 1-BP INS, 1527A
PCNT, 1-BP INS, 841G
PCNT, 3-BP DEL, 9460AAG
PCNT, 486-BP DEL, NT84

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