ClinVar Miner

List of variants in gene PNPLA6 reported as uncertain significance by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met) rs145988230 0.00160
NM_001166114.2(PNPLA6):c.1357G>A (p.Ala453Thr) rs761591000 0.00010
NM_001166114.2(PNPLA6):c.2488G>C (p.Gly830Arg) rs1244234383 0.00006
NM_001166114.2(PNPLA6):c.1492G>A (p.Ala498Thr) rs375397452 0.00005
NM_001166114.2(PNPLA6):c.1594C>T (p.Arg532Cys) rs745665473 0.00003
NM_001166114.2(PNPLA6):c.3095G>C (p.Ser1032Thr) rs377449787 0.00003
NM_001166114.2(PNPLA6):c.1181A>G (p.Lys394Arg) rs764509267 0.00002
NM_001166114.2(PNPLA6):c.4054C>T (p.Arg1352Cys) rs1204274988 0.00002
NM_001166114.2(PNPLA6):c.2696G>A (p.Arg899Gln) rs1396289067 0.00001
NM_001166114.2(PNPLA6):c.713C>T (p.Pro238Leu) rs763499274 0.00001
NM_001166114.2(PNPLA6):c.3172C>T (p.Arg1058Cys) rs576986571
NM_001166114.2(PNPLA6):c.3209A>G (p.Glu1070Gly) rs2146108265
NM_001166114.2(PNPLA6):c.335C>T (p.Ser112Phe)
NM_001166114.2(PNPLA6):c.469G>T (p.Ala157Ser) rs767940871

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