ClinVar Miner

List of variants in gene NTHL1 reported as uncertain significance by Sema4, Sema4

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Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr) rs1805378 0.00155
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys) rs148104494 0.00086
NM_002528.7(NTHL1):c.712G>A (p.Ala238Thr) rs147559648 0.00043
NM_002528.7(NTHL1):c.149C>T (p.Pro50Leu) rs139165943 0.00019
NM_002528.7(NTHL1):c.184G>A (p.Gly62Ser) rs368897948 0.00014
NM_002528.7(NTHL1):c.416C>T (p.Thr139Met) rs756597137 0.00013
NM_002528.7(NTHL1):c.358C>G (p.Arg120Gly) rs370228590 0.00010
NM_002528.7(NTHL1):c.44T>C (p.Leu15Pro) rs781328762 0.00010
NM_002528.7(NTHL1):c.746A>G (p.Lys249Arg) rs373067940 0.00009
NM_002528.7(NTHL1):c.896C>T (p.Pro299Leu) rs367629024 0.00009
NM_002528.7(NTHL1):c.652A>G (p.Met218Val) rs367577861 0.00008
NM_002528.7(NTHL1):c.769G>A (p.Ala257Thr) rs148474733 0.00008
NM_002528.7(NTHL1):c.103G>C (p.Glu35Gln) rs747272786 0.00007
NM_002528.7(NTHL1):c.37C>T (p.Arg13Trp) rs3087469 0.00007
NM_002528.7(NTHL1):c.677C>T (p.Ser226Leu) rs3211977 0.00007
NM_002528.7(NTHL1):c.85G>A (p.Gly29Arg) rs1161055704 0.00007
NM_002528.7(NTHL1):c.31C>T (p.Arg11Trp) rs549760347 0.00006
NM_002528.7(NTHL1):c.170G>A (p.Arg57His) rs774831009 0.00005
NM_002528.7(NTHL1):c.763C>T (p.Arg255Cys) rs779992803 0.00005
NM_002528.7(NTHL1):c.119C>T (p.Ala40Val) rs375615004 0.00004
NM_002528.7(NTHL1):c.151C>T (p.Arg51Trp) rs376907606 0.00004
NM_002528.7(NTHL1):c.188C>T (p.Ser63Leu) rs746458904 0.00004
NM_002528.7(NTHL1):c.169C>T (p.Arg57Cys) rs767591879 0.00003
NM_002528.7(NTHL1):c.298G>A (p.Ala100Thr) rs772576699 0.00003
NM_002528.7(NTHL1):c.334G>A (p.Asp112Asn) rs1000576492 0.00003
NM_002528.7(NTHL1):c.446G>A (p.Arg149Gln) rs150437839 0.00003
NM_002528.7(NTHL1):c.620C>T (p.Pro207Leu) rs755619109 0.00003
NM_002528.7(NTHL1):c.7G>T (p.Ala3Ser) rs753350404 0.00003
NM_002528.7(NTHL1):c.20G>C (p.Arg7Thr) rs930166212 0.00002
NM_002528.7(NTHL1):c.242C>T (p.Pro81Leu) rs753642509 0.00002
NM_002528.7(NTHL1):c.252G>C (p.Trp84Cys) rs372698989 0.00002
NM_002528.7(NTHL1):c.332A>G (p.Tyr111Cys) rs138812334 0.00002
NM_002528.7(NTHL1):c.139G>A (p.Val47Met) rs1210160367 0.00001
NM_002528.7(NTHL1):c.146G>A (p.Arg49His) rs566254536 0.00001
NM_002528.7(NTHL1):c.17C>T (p.Ala6Val) rs767282292 0.00001
NM_002528.7(NTHL1):c.304G>A (p.Val102Met) rs1333635641 0.00001
NM_002528.7(NTHL1):c.32G>A (p.Arg11Gln) rs372992221 0.00001
NM_002528.7(NTHL1):c.439C>T (p.Arg147Trp) rs1200691336 0.00001
NM_002528.7(NTHL1):c.46G>C (p.Gly16Arg) rs1271271380 0.00001
NM_002528.7(NTHL1):c.519C>T (p.Phe173=) rs1401228518 0.00001
NM_002528.7(NTHL1):c.526-10T>A rs199771569 0.00001
NM_002528.7(NTHL1):c.590C>T (p.Pro197Leu) rs2084299761 0.00001
NM_002528.7(NTHL1):c.621G>A (p.Pro207=) rs745383145 0.00001
NM_002528.7(NTHL1):c.625G>A (p.Val209Ile) rs780658029 0.00001
NM_002528.7(NTHL1):c.649G>A (p.Ala217Thr) rs758319892 0.00001
NM_002528.7(NTHL1):c.751C>G (p.Pro251Ala) rs367765503 0.00001
NM_002528.7(NTHL1):c.812A>G (p.Asn271Ser) rs149287105 0.00001
NM_002528.7(NTHL1):c.91C>T (p.Leu31Phe) rs1259870849 0.00001
NM_002528.7(NTHL1):c.-5C>G rs552723791
NM_002528.7(NTHL1):c.-8A>T rs566165031
NM_002528.7(NTHL1):c.106G>T (p.Ala36Ser) rs2150957402
NM_002528.7(NTHL1):c.14G>C (p.Ser5Thr) rs750166500
NM_002528.7(NTHL1):c.152G>A (p.Arg51Gln) rs773364076
NM_002528.7(NTHL1):c.21G>T (p.Arg7Ser) rs762030002
NM_002528.7(NTHL1):c.229C>T (p.Pro77Ser) rs1364808920
NM_002528.7(NTHL1):c.241C>G (p.Pro81Ala) rs1397863507
NM_002528.7(NTHL1):c.269A>G (p.Asn90Ser) rs1442043769
NM_002528.7(NTHL1):c.314T>C (p.Leu105Pro) rs2150945263
NM_002528.7(NTHL1):c.32GGAGCC[1] (p.11RS[1]) rs2084525681
NM_002528.7(NTHL1):c.330C>T (p.Cys110=) rs2150945100
NM_002528.7(NTHL1):c.350C>T (p.Pro117Leu) rs777263711
NM_002528.7(NTHL1):c.355-3C>T rs1188936333
NM_002528.7(NTHL1):c.386T>C (p.Met129Thr) rs2150942480
NM_002528.7(NTHL1):c.38G>T (p.Arg13Leu) rs2084526654
NM_002528.7(NTHL1):c.454A>G (p.Thr152Ala) rs1472473035
NM_002528.7(NTHL1):c.526-3C>T rs2084301468
NM_002528.7(NTHL1):c.604G>A (p.Glu202Lys) rs919177150
NM_002528.7(NTHL1):c.616C>T (p.Leu206=) rs2084298971
NM_002528.7(NTHL1):c.743C>T (p.Thr248Ile) rs577781337
NM_002528.7(NTHL1):c.748T>A (p.Ser250Thr) rs199698117
NM_002528.7(NTHL1):c.749C>T (p.Ser250Phe) rs1388969000
NM_002528.7(NTHL1):c.763C>G (p.Arg255Gly) rs779992803
NM_002528.7(NTHL1):c.769G>C (p.Ala257Pro) rs148474733
NM_002528.7(NTHL1):c.792-3C>T rs3087467
NM_002528.7(NTHL1):c.912_913dup (p.Ter305SerextTer?) rs2150937701

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