ClinVar Miner

List of variants in gene PC reported as benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP
NM_001040716.2(PC):c.*106G>T
NM_001040716.2(PC):c.-274A>C rs192495346
NM_001040716.2(PC):c.1054G>T (p.Ala352Ser) rs1051704
NM_001040716.2(PC):c.1167G>A (p.Pro389=) rs556534486
NM_001040716.2(PC):c.1344G>A (p.Ala448=) rs148281644
NM_001040716.2(PC):c.1401C>T (p.Asn467=) rs45623237
NM_001040716.2(PC):c.1494A>G (p.Gln498=) rs761935997
NM_001040716.2(PC):c.1513+9C>A rs45580638
NM_001040716.2(PC):c.1604-17G>A rs79317761
NM_001040716.2(PC):c.1608G>A (p.Pro536=) rs139074169
NM_001040716.2(PC):c.1683G>A (p.Pro561=) rs113071273
NM_001040716.2(PC):c.1702A>G (p.Thr568Ala) rs199969388
NM_001040716.2(PC):c.216G>A (p.Thr72=) rs117711892
NM_001040716.2(PC):c.2223+19C>T rs45457699
NM_001040716.2(PC):c.2224-9T>G rs45560936
NM_001040716.2(PC):c.2249C>T (p.Thr750Met) rs145400751
NM_001040716.2(PC):c.227A>T (p.His76Leu) rs7104156
NM_001040716.2(PC):c.2286C>G (p.Arg762=) rs1051707
NM_001040716.2(PC):c.2535C>T (p.Tyr845=) rs534635326
NM_001040716.2(PC):c.2577G>A (p.Ser859=) rs199879375
NM_001040716.2(PC):c.2580C>T (p.Asp860=) rs45584036
NM_001040716.2(PC):c.2586T>C (p.Tyr862=)
NM_001040716.2(PC):c.2592T>C (p.Asn864=) rs375784582
NM_001040716.2(PC):c.2619C>T (p.Asn873=) rs2229745
NM_001040716.2(PC):c.2682T>C (p.Tyr894=) rs56705397
NM_001040716.2(PC):c.2856C>T (p.Ile952=) rs183661331
NM_001040716.2(PC):c.2874G>T (p.Gly958=) rs1131855
NM_001040716.2(PC):c.3042C>T (p.Pro1014=)
NM_001040716.2(PC):c.3198C>T (p.Ser1066=) rs144087445
NM_001040716.2(PC):c.321+5G>A rs200766019
NM_001040716.2(PC):c.322-10C>T rs371834866
NM_001040716.2(PC):c.3234T>C (p.Phe1078=)
NM_001040716.2(PC):c.52C>A (p.Arg18=) rs144583275
NM_001040716.2(PC):c.616G>T (p.Val206Leu) rs147945506
NM_001040716.2(PC):c.634-5C>T
NM_001040716.2(PC):c.85G>A (p.Val29Ile) rs45471099
NM_001040716.2(PC):c.879C>T (p.Ser293=) rs183131461
NM_001040716.2(PC):c.951C>T (p.His317=) rs142309583

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