ClinVar Miner

List of variants in gene PMM2 reported by Counsyl

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Gene type:
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Total variants: 77
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HGVS dbSNP
NM_000303.2(PMM2):c.451_454delGAAA (p.Glu151Ilefs) rs1274794195
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter) rs1555448899
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg) rs755402538
NM_000303.3(PMM2):c.131T>C (p.Val44Ala) rs104894534
NM_000303.3(PMM2):c.178+2T>G rs1555448922
NM_000303.3(PMM2):c.179-15del rs145496357
NM_000303.3(PMM2):c.179-1G>T rs1166138838
NM_000303.3(PMM2):c.189del (p.Lys63fs) rs1057516815
NM_000303.3(PMM2):c.190del (p.Tyr64fs) rs1339004837
NM_000303.3(PMM2):c.193G>T (p.Asp65Tyr) rs104894527
NM_000303.3(PMM2):c.1A>G (p.Met1Val) rs786204591
NM_000303.3(PMM2):c.200T>G (p.Val67Gly) rs751986971
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
NM_000303.3(PMM2):c.24del (p.Cys9fs) rs768021123
NM_000303.3(PMM2):c.255+2T>C rs139716296
NM_000303.3(PMM2):c.256-2A>G rs1057516372
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr) rs104894532
NM_000303.3(PMM2):c.27C>A (p.Cys9Ter) rs1057516943
NM_000303.3(PMM2):c.305A>G (p.Tyr102Cys) rs1187245939
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe) rs387906824
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569
NM_000303.3(PMM2):c.324del (p.Ile110fs) rs1555449314
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) rs80338700
NM_000303.3(PMM2):c.341_343AGA[1] (p.Lys115del) rs1555449316
NM_000303.3(PMM2):c.345dup (p.Arg116fs) rs1057516757
NM_000303.3(PMM2):c.347+1G>A rs1057517117
NM_000303.3(PMM2):c.348-1G>C rs1555449604
NM_000303.3(PMM2):c.348-2A>C rs1555449603
NM_000303.3(PMM2):c.355T>C (p.Phe119Leu) rs1057517110
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.3(PMM2):c.395T>C (p.Ile132Thr) rs80338702
NM_000303.3(PMM2):c.414del (p.Glu139fs) rs755008774
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys) rs746610168
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105
NM_000303.3(PMM2):c.432C>A (p.Phe144Leu) rs1555449617
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala) rs958073558
NM_000303.3(PMM2):c.454_455del (p.Asn152fs) rs771240150
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr) rs150577656
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526
NM_000303.3(PMM2):c.511dup (p.Thr171fs) rs1057516323
NM_000303.3(PMM2):c.523+3A>G rs774107741
NM_000303.3(PMM2):c.524-2A>G rs1555449780
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr) rs1555449795
NM_000303.3(PMM2):c.554A>G (p.Asp185Gly) rs1386173214
NM_000303.3(PMM2):c.560G>A (p.Trp187Ter) rs1057516886
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly) rs80338704
NM_000303.3(PMM2):c.617del (p.Phe206fs) rs1555449810
NM_000303.3(PMM2):c.618C>A (p.Phe206Leu) rs1460691341
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp) rs758340382
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser) rs532870929
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala) rs398123309
NM_000303.3(PMM2):c.639+1G>A rs1057517183
NM_000303.3(PMM2):c.640-15479C>T rs1258107584
NM_000303.3(PMM2):c.640-25_640-22dup rs1555453228
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser) rs1555453238
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141
NM_000303.3(PMM2):c.651C>A (p.Asp217Glu) rs752614554
NM_000303.3(PMM2):c.653dup (p.His218fs) rs1555453241
NM_000303.3(PMM2):c.66+1del rs1555495965
NM_000303.3(PMM2):c.67-2A>T rs1555448897
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter) rs763091085
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709
NM_000303.3(PMM2):c.737_739del (p.Ser246del) rs764817746
NM_000303.3(PMM2):c.739T>C (p.Ter247Gln) rs1555453271
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760
NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg) rs398123312

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