ClinVar Miner

List of variants in gene PNPT1 reported as uncertain significance by GeneDx

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln) rs34928857 0.00131
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) rs146571352 0.00109
NM_033109.5(PNPT1):c.1676C>G (p.Ala559Gly) rs149843729 0.00038
NM_033109.5(PNPT1):c.1099C>T (p.Leu367Phe) rs142840568 0.00029
NM_033109.5(PNPT1):c.1795T>A (p.Ser599Thr) rs147375807 0.00026
NM_033109.5(PNPT1):c.2148+6A>T rs374690825 0.00018
NM_033109.5(PNPT1):c.1907G>A (p.Gly636Asp) rs143197548 0.00014
NM_033109.5(PNPT1):c.1619A>G (p.Asn540Ser) rs202190573 0.00010
NM_033109.5(PNPT1):c.40C>T (p.Arg14Trp) rs199712282 0.00010
NM_033109.5(PNPT1):c.1189G>A (p.Val397Ile) rs200016391 0.00009
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg) rs374698153 0.00008
NM_033109.5(PNPT1):c.1771A>C (p.Lys591Gln) rs542676905 0.00008
NM_033109.5(PNPT1):c.397A>G (p.Ile133Val) rs756714219 0.00007
NM_033109.5(PNPT1):c.1834G>T (p.Val612Phe) rs752148258 0.00006
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser) rs151166046 0.00006
NM_033109.5(PNPT1):c.667A>G (p.Lys223Glu) rs752759589 0.00006
NM_033109.5(PNPT1):c.1471G>A (p.Gly491Arg) rs772291464 0.00005
NM_033109.5(PNPT1):c.1583G>A (p.Arg528His) rs367713105 0.00004
NM_033109.5(PNPT1):c.1982G>A (p.Arg661Lys) rs201269381 0.00004
NM_033109.5(PNPT1):c.472G>T (p.Ala158Ser) rs766919363 0.00004
NM_033109.5(PNPT1):c.1382T>C (p.Val461Ala) rs752666494 0.00003
NM_033109.5(PNPT1):c.1566T>A (p.Gly522=) rs754237697 0.00003
NM_033109.5(PNPT1):c.2224G>A (p.Asp742Asn) rs187750584 0.00003
NM_033109.5(PNPT1):c.649G>A (p.Val217Met) rs758922668 0.00003
NM_033109.5(PNPT1):c.673C>G (p.Gln225Glu) rs891974446 0.00003
NM_033109.5(PNPT1):c.2147A>G (p.Lys716Arg) rs1318691269 0.00002
NM_033109.5(PNPT1):c.251C>T (p.Ala84Val) rs145552327 0.00002
NM_033109.5(PNPT1):c.466C>G (p.Leu156Val) rs779832293 0.00002
NM_033109.5(PNPT1):c.1022A>G (p.Asn341Ser) rs759908051 0.00001
NM_033109.5(PNPT1):c.1357C>T (p.Leu453Phe) rs141173235 0.00001
NM_033109.5(PNPT1):c.1361C>G (p.Ala454Gly) rs200088200 0.00001
NM_033109.5(PNPT1):c.1758A>C (p.Leu586Phe) rs767387569 0.00001
NM_033109.5(PNPT1):c.2213G>A (p.Arg738His) rs574670461 0.00001
NM_033109.5(PNPT1):c.2261C>T (p.Ser754Leu) rs756689143 0.00001
NM_033109.5(PNPT1):c.418C>T (p.Pro140Ser) rs771597979 0.00001
GRCh37/hg19 2p16.1(chr2:55910769-55921261)x3
GRCh37/hg19 2p16.1(chr2:55910804-55921261)x3
NM_033109.5(PNPT1):c.1066T>C (p.Tyr356His) rs2104109848
NM_033109.5(PNPT1):c.1141C>T (p.His381Tyr) rs267599414
NM_033109.5(PNPT1):c.1175A>C (p.Gln392Pro)
NM_033109.5(PNPT1):c.1563G>A (p.Lys521=) rs863224169
NM_033109.5(PNPT1):c.1717G>C (p.Glu573Gln)
NM_033109.5(PNPT1):c.1846A>G (p.Lys616Glu)
NM_033109.5(PNPT1):c.1913C>T (p.Thr638Ile) rs375324746
NM_033109.5(PNPT1):c.1960C>T (p.Pro654Ser) rs765801538
NM_033109.5(PNPT1):c.2039C>T (p.Ala680Val) rs1402295663
NM_033109.5(PNPT1):c.2105T>C (p.Met702Thr)
NM_033109.5(PNPT1):c.2259G>T (p.Gln753His)
NM_033109.5(PNPT1):c.2298_2300del (p.Arg766del)
NM_033109.5(PNPT1):c.299T>G (p.Val100Gly)
NM_033109.5(PNPT1):c.385C>G (p.Leu129Val)
NM_033109.5(PNPT1):c.395G>A (p.Arg132Gln) rs1320187955
NM_033109.5(PNPT1):c.521C>T (p.Ser174Phe) rs1553501171
NM_033109.5(PNPT1):c.695C>T (p.Ser232Phe)
NM_033109.5(PNPT1):c.716A>C (p.Gln239Pro) rs766647494
NM_033109.5(PNPT1):c.872C>T (p.Ala291Val) rs1696933161
NM_033109.5(PNPT1):c.892G>C (p.Val298Leu)

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