ClinVar Miner

List of variants in gene combination MVP-DT, PRRT2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 158
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HGVS dbSNP gnomAD frequency
NC_000016.10:g.29812021T>C rs8054524 0.99299
NM_145239.3(PRRT2):c.*55C>A rs141436390 0.01961
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala) rs79182085 0.00798
NM_145239.3(PRRT2):c.751= (p.Leu251=) rs11150573 0.00684
NM_145239.3(PRRT2):c.880-14C>T rs148323840 0.00326
NM_145239.3(PRRT2):c.612C>G (p.Pro204=) rs149260055 0.00121
NM_145239.3(PRRT2):c.133C>T (p.Pro45Ser) rs11556732 0.00118
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys) rs140383655 0.00110
NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro) rs745594874 0.00093
NM_145239.3(PRRT2):c.439G>C (p.Asp147His) rs79568162 0.00052
NM_145239.3(PRRT2):c.645C>T (p.Pro215=) rs183683129 0.00048
NM_145239.3(PRRT2):c.828C>T (p.Cys276=) rs35625748 0.00043
NM_145239.3(PRRT2):c.879+57G>A rs576111999 0.00042
NM_145239.3(PRRT2):c.644C>G (p.Pro215Arg) rs200926711 0.00039
NM_145239.3(PRRT2):c.*11C>T rs201814968 0.00025
NM_145239.3(PRRT2):c.1013T>C (p.Val338Ala) rs144540943 0.00025
NM_145239.3(PRRT2):c.225G>A (p.Pro75=) rs199662641 0.00019
NM_145239.3(PRRT2):c.-30T>C rs202072359 0.00015
NM_145239.3(PRRT2):c.879+6C>A rs201887920 0.00011
NM_145239.3(PRRT2):c.1013-29C>T rs745834081 0.00010
NM_145239.3(PRRT2):c.171C>T (p.Ala57=) rs771487218 0.00010
NM_145239.3(PRRT2):c.880-13G>A rs377384734 0.00008
NM_145239.3(PRRT2):c.1013-61C>T rs565298585 0.00007
NM_145239.3(PRRT2):c.460C>T (p.Pro154Ser) rs571941412 0.00007
NM_145239.3(PRRT2):c.580G>A (p.Glu194Lys) rs139516010 0.00007
NM_145239.3(PRRT2):c.643C>T (p.Pro215Ser) rs374642875 0.00006
NM_145239.3(PRRT2):c.167C>T (p.Ala56Val) rs780909712 0.00005
NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu) rs560303559 0.00005
NM_145239.3(PRRT2):c.1013-16C>T rs539524685 0.00004
NM_145239.3(PRRT2):c.352G>A (p.Ala118Thr) rs201636905 0.00004
NM_145239.3(PRRT2):c.719G>A (p.Arg240Gln) rs758246761 0.00004
NM_145239.3(PRRT2):c.-66+19G>A rs1000923002 0.00003
NM_145239.3(PRRT2):c.183A>G (p.Ser61=) rs775396962 0.00003
NM_145239.3(PRRT2):c.303C>T (p.Pro101=) rs570325174 0.00003
NM_145239.3(PRRT2):c.309C>T (p.Asp103=) rs772941122 0.00003
NM_145239.3(PRRT2):c.415G>A (p.Ala139Thr) rs763634807 0.00003
NM_145239.3(PRRT2):c.522T>G (p.Ser174Arg) rs777955072 0.00003
NM_145239.3(PRRT2):c.603C>G (p.His201Gln) rs543313284 0.00003
NM_145239.3(PRRT2):c.755C>G (p.Ala252Gly) rs1053144630 0.00003
NM_145239.3(PRRT2):c.931C>T (p.Arg311Trp) rs760521217 0.00003
NM_145239.3(PRRT2):c.*13C>T rs375179846 0.00002
NM_145239.3(PRRT2):c.-66+1G>A rs796052939 0.00002
NM_145239.3(PRRT2):c.1013-30C>G rs776362124 0.00002
NM_145239.3(PRRT2):c.997G>A (p.Val333Ile) rs749851660 0.00002
NM_145239.3(PRRT2):c.-25G>C rs767022699 0.00001
NM_145239.3(PRRT2):c.-32C>T rs777663292 0.00001
NM_145239.3(PRRT2):c.1011C>T (p.Gly337=) rs745970212 0.00001
NM_145239.3(PRRT2):c.324_325del (p.Ser110fs) rs886042013 0.00001
NM_145239.3(PRRT2):c.347A>T (p.Lys116Ile) rs201468618 0.00001
NM_145239.3(PRRT2):c.357T>G (p.Thr119=) rs137942866 0.00001
NM_145239.3(PRRT2):c.431C>T (p.Pro144Leu) rs1317648011 0.00001
NM_145239.3(PRRT2):c.43G>A (p.Glu15Lys) rs1900058315 0.00001
NM_145239.3(PRRT2):c.455C>A (p.Pro152His) rs760278435 0.00001
NM_145239.3(PRRT2):c.47A>G (p.Glu16Gly) rs1900058666 0.00001
NM_145239.3(PRRT2):c.66C>T (p.Gly22=) rs775756146 0.00001
NM_145239.3(PRRT2):c.77G>C (p.Gly26Ala) rs1227681764 0.00001
NM_145239.3(PRRT2):c.808A>G (p.Ile270Val) rs1383421303 0.00001
NM_145239.3(PRRT2):c.834C>T (p.Cys278=) rs758654999 0.00001
NM_145239.3(PRRT2):c.85G>A (p.Glu29Lys) rs1555502574 0.00001
NM_145239.3(PRRT2):c.880-11C>T rs769037377 0.00001
NM_145239.3(PRRT2):c.880-34G>A rs1239450803 0.00001
NM_145239.3(PRRT2):c.883C>T (p.Arg295Trp) rs200185554 0.00001
NM_145239.3(PRRT2):c.884G>A (p.Arg295Gln) rs1468206811 0.00001
NM_145239.3(PRRT2):c.912C>T (p.Asp304=) rs759633234 0.00001
NM_145239.3(PRRT2):c.913G>A (p.Gly305Arg) rs767799831 0.00001
NM_145239.3(PRRT2):c.923G>A (p.Arg308His) rs989894169 0.00001
NM_145239.3(PRRT2):c.932G>A (p.Arg311Gln) rs866838115 0.00001
NM_145239.3(PRRT2):c.936A>T (p.Val312=) rs1057520864 0.00001
NM_145239.3(PRRT2):c.955G>T (p.Val319Leu) rs945627261 0.00001
NM_145239.3(PRRT2):c.-15dup rs1596889604
NM_145239.3(PRRT2):c.-57G>A rs1057523086
NM_145239.3(PRRT2):c.-58C>T rs1057523156
NM_145239.3(PRRT2):c.-65-15CTC[2] rs1555502536
NM_145239.3(PRRT2):c.-65-28_-65-7dup rs1064796153
NM_145239.3(PRRT2):c.-65-2dup rs1555502538
NM_145239.3(PRRT2):c.-88_-66+6del rs1555502431
NM_145239.3(PRRT2):c.1012+19C>T rs1057521417
NM_145239.3(PRRT2):c.1012+54G>A
NM_145239.3(PRRT2):c.1012+5G>A rs2142429667
NM_145239.3(PRRT2):c.1012G>A (p.Val338Met) rs772116016
NM_145239.3(PRRT2):c.1013-12C>T rs765953118
NM_145239.3(PRRT2):c.1013-71del
NM_145239.3(PRRT2):c.1013T>A (p.Val338Glu) rs144540943
NM_145239.3(PRRT2):c.145C>G (p.Gln49Glu) rs2543331489
NM_145239.3(PRRT2):c.165T>G (p.Thr55=) rs754536441
NM_145239.3(PRRT2):c.173del (p.Pro58fs) rs796052940
NM_145239.3(PRRT2):c.191_207dup (p.Glu70fs) rs886041735
NM_145239.3(PRRT2):c.210_211del (p.Glu70fs) rs886041579
NM_145239.3(PRRT2):c.215C>T (p.Thr72Ile) rs1900069841
NM_145239.3(PRRT2):c.215_216del (p.Thr72fs) rs796052943
NM_145239.3(PRRT2):c.219_220del (p.Glu73fs)
NM_145239.3(PRRT2):c.221C>A (p.Thr74Asn) rs1394261454
NM_145239.3(PRRT2):c.221C>T (p.Thr74Ile) rs1394261454
NM_145239.3(PRRT2):c.239A>G (p.Glu80Gly) rs1064796466
NM_145239.3(PRRT2):c.259C>G (p.Leu87Val) rs1596890511
NM_145239.3(PRRT2):c.264C>T (p.Ser88=) rs752453955
NM_145239.3(PRRT2):c.302C>A (p.Pro101His)
NM_145239.3(PRRT2):c.323_324del (p.Thr108fs) rs886041327
NM_145239.3(PRRT2):c.325G>A (p.Val109Met) rs1900077018
NM_145239.3(PRRT2):c.32T>G (p.Met11Arg) rs796052942
NM_145239.3(PRRT2):c.363C>G (p.Asp121Glu) rs750763267
NM_145239.3(PRRT2):c.369G>T (p.Gly123=) rs1057521000
NM_145239.3(PRRT2):c.429C>G (p.Asp143Glu) rs2142424416
NM_145239.3(PRRT2):c.433dup (p.Arg145fs) rs796052944
NM_145239.3(PRRT2):c.436C>A (p.Pro146Thr) rs1900084663
NM_145239.3(PRRT2):c.452C>T (p.Thr151Ile)
NM_145239.3(PRRT2):c.471A>G (p.Gln157=) rs763214510
NM_145239.3(PRRT2):c.500C>G (p.Thr167Ser)
NM_145239.3(PRRT2):c.514_517del (p.Ser172fs) rs730882065
NM_145239.3(PRRT2):c.519G>A (p.Glu173=) rs372588022
NM_145239.3(PRRT2):c.564G>A (p.Gln188=) rs545201760
NM_145239.3(PRRT2):c.577dup (p.Glu193fs) rs1131692000
NM_145239.3(PRRT2):c.593_594del (p.Pro198fs) rs1260966131
NM_145239.3(PRRT2):c.604_607del (p.Ser202fs) rs1064793851
NM_145239.3(PRRT2):c.623C>A (p.Ser208Tyr) rs201409113
NM_145239.3(PRRT2):c.623C>T (p.Ser208Phe) rs201409113
NM_145239.3(PRRT2):c.629del (p.Pro210fs) rs730882067
NM_145239.3(PRRT2):c.629dup (p.Ala211fs) rs730882067
NM_145239.3(PRRT2):c.638G>A (p.Gly213Glu) rs796052935
NM_145239.3(PRRT2):c.640delinsCC (p.Ala214fs) rs2466344219
NM_145239.3(PRRT2):c.647C>A (p.Pro216His) rs76335820
NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg) rs76335820
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter) rs77838305
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.650del (p.Arg217fs) rs730882124
NM_145239.3(PRRT2):c.679C>T (p.Arg227Ter) rs370732306
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter) rs387907126
NM_145239.3(PRRT2):c.758G>C (p.Gly253Ala)
NM_145239.3(PRRT2):c.769_778del (p.Glu257fs) rs886041960
NM_145239.3(PRRT2):c.776G>A (p.Gly259Asp)
NM_145239.3(PRRT2):c.776G>T (p.Gly259Val) rs777074603
NM_145239.3(PRRT2):c.80A>C (p.His27Pro)
NM_145239.3(PRRT2):c.823T>C (p.Ser275Pro) rs1064793238
NM_145239.3(PRRT2):c.844C>T (p.Pro282Ser) rs2543336475
NM_145239.3(PRRT2):c.859G>C (p.Ala287Pro) rs1900116554
NM_145239.3(PRRT2):c.85G>T (p.Glu29Ter) rs1555502574
NM_145239.3(PRRT2):c.864C>A (p.Phe288Leu) rs1359563519
NM_145239.3(PRRT2):c.871G>A (p.Ala291Thr) rs1596893141
NM_145239.3(PRRT2):c.872C>A (p.Ala291Asp) rs796052936
NM_145239.3(PRRT2):c.878T>G (p.Met293Arg) rs1555502804
NM_145239.3(PRRT2):c.879+20A>G rs1555502808
NM_145239.3(PRRT2):c.87A>G (p.Glu29=) rs1057521028
NM_145239.3(PRRT2):c.884_885delinsCT (p.Arg295Pro) rs2142428805
NM_145239.3(PRRT2):c.896A>G (p.Gln299Arg) rs2142428856
NM_145239.3(PRRT2):c.916G>C (p.Ala306Pro) rs727504111
NM_145239.3(PRRT2):c.916G>T (p.Ala306Ser) rs727504111
NM_145239.3(PRRT2):c.922C>T (p.Arg308Cys) rs932713001
NM_145239.3(PRRT2):c.932G>C (p.Arg311Pro) rs866838115
NM_145239.3(PRRT2):c.955G>A (p.Val319Met) rs945627261
NM_145239.3(PRRT2):c.968G>A (p.Gly323Glu)
NM_145239.3(PRRT2):c.971G>C (p.Gly324Ala) rs796052938
NM_145239.3(PRRT2):c.971del (p.Gly324fs) rs796052941
NM_145239.3(PRRT2):c.976C>A (p.Leu326Ile) rs1900142681
NM_145239.3(PRRT2):c.979ATC[2] (p.Ile329del) rs1057518374
NM_145239.3(PRRT2):c.982A>T (p.Ile328Phe)
NM_145239.3(PRRT2):c.985A>G (p.Ile329Val) rs2142429495

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