ClinVar Miner

List of variants in gene PMS2 reported as likely pathogenic by Color Diagnostics, LLC DBA Color Health

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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp) rs188006077 0.00001
NM_000535.7(PMS2):c.538-1G>C rs988423880 0.00001
NM_000535.7(PMS2):c.538-2A>G rs758304323 0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342 0.00001
NM_000535.7(PMS2):c.1145-1G>A
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del) rs863224676
NM_000535.7(PMS2):c.163+1G>A rs1064795705
NM_000535.7(PMS2):c.163+1G>T rs1064795705
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val) rs869320619
NM_000535.7(PMS2):c.2175-1G>T
NM_000535.7(PMS2):c.2275+1G>C rs1554294393
NM_000535.7(PMS2):c.24-1G>A rs1785723689
NM_000535.7(PMS2):c.2421del (p.Phe807fs)
NM_000535.7(PMS2):c.353+1G>A rs113517055
NM_000535.7(PMS2):c.353+2T>C rs111466480
NM_000535.7(PMS2):c.538-2A>C rs758304323
NM_000535.7(PMS2):c.705+1G>A rs267608147
NM_000535.7(PMS2):c.705+2T>C rs1784783734
NM_000535.7(PMS2):c.804-1G>A rs1562664845
NM_000535.7(PMS2):c.903+1G>T rs1554300689
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_000535.7(PMS2):c.988+1G>T rs757110564

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