ClinVar Miner

List of variants in gene GPD1 studied for digestive system disorder

Included ClinVar conditions (605):
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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_005276.4(GPD1):c.1017C>T (p.Ile339=) rs836180 0.29360
NM_005276.4(GPD1):c.431T>C (p.Met144Thr) rs146239968 0.00096
NM_005276.4(GPD1):c.398C>T (p.Ser133Leu) rs184522376 0.00004
NM_005276.4(GPD1):c.895G>A (p.Gly299Arg) rs889092603 0.00001
NM_005276.4(GPD1):c.953+1G>A rs1592303371 0.00001
NM_005276.4(GPD1):c.219+1G>A rs2137920321
NM_005276.4(GPD1):c.219+1_219+3del rs2137920303
NM_005276.4(GPD1):c.34G>A (p.Gly12Arg) rs776284291
NM_005276.4(GPD1):c.361-1G>C rs200327418
NM_005276.4(GPD1):c.361G>A (p.Gly121Arg) rs35428353
NM_005276.4(GPD1):c.666C>G (p.Asn222Lys)
NM_005276.4(GPD1):c.686G>C (p.Arg229Pro) rs199673455
NM_005276.4(GPD1):c.905C>G (p.Thr302Arg)
NM_005276.4(GPD1):c.991G>A (p.Glu331Lys) rs962948404

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