ClinVar Miner

List of variants in gene PRRT2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP
GRCh37/hg19 16p11.2(chr16:29824309-29825959)x1
GRCh37/hg19 16p11.2(chr16:29824376-29825959)x1
NM_145239.3(PRRT2):c.-15dup rs1596889604
NM_145239.3(PRRT2):c.-30T>C rs202072359
NM_145239.3(PRRT2):c.-65-2dup rs1555502538
NM_145239.3(PRRT2):c.-66+19G>A rs1000923002
NM_145239.3(PRRT2):c.-66+1G>A rs796052939
NM_145239.3(PRRT2):c.1012G>A (p.Val338Met)
NM_145239.3(PRRT2):c.1013-12C>T rs765953118
NM_145239.3(PRRT2):c.1013-29C>T rs745834081
NM_145239.3(PRRT2):c.1013T>C (p.Val338Ala) rs144540943
NM_145239.3(PRRT2):c.1016A>G (p.Tyr339Cys) rs1596895035
NM_145239.3(PRRT2):c.1020G>A (p.Lys340=) rs794727658
NM_145239.3(PRRT2):c.133C>T (p.Pro45Ser) rs11556732
NM_145239.3(PRRT2):c.173del (p.Pro58fs) rs796052940
NM_145239.3(PRRT2):c.191_207dup (p.Glu70fs) rs886041735
NM_145239.3(PRRT2):c.201G>A (p.Leu67=) rs1416186042
NM_145239.3(PRRT2):c.210_211del (p.Glu70fs) rs886041579
NM_145239.3(PRRT2):c.215_216del (p.Thr72fs) rs796052943
NM_145239.3(PRRT2):c.221C>A (p.Thr74Asn) rs1394261454
NM_145239.3(PRRT2):c.222C>G (p.Thr74=) rs1555502624
NM_145239.3(PRRT2):c.224C>T (p.Pro75Leu) rs147004110
NM_145239.3(PRRT2):c.225G>A (p.Pro75=) rs199662641
NM_145239.3(PRRT2):c.239A>G (p.Glu80Gly) rs1064796466
NM_145239.3(PRRT2):c.27T>G (p.Ser9=) rs1596889747
NM_145239.3(PRRT2):c.27dup (p.Glu10Ter)
NM_145239.3(PRRT2):c.281A>T (p.Glu94Val)
NM_145239.3(PRRT2):c.309C>T (p.Asp103=) rs772941122
NM_145239.3(PRRT2):c.323_324del (p.Thr108fs) rs886041327
NM_145239.3(PRRT2):c.324_325del (p.Ser110fs) rs886042013
NM_145239.3(PRRT2):c.32T>G (p.Met11Arg) rs796052942
NM_145239.3(PRRT2):c.347A>T (p.Lys116Ile) rs201468618
NM_145239.3(PRRT2):c.352G>A (p.Ala118Thr) rs201636905
NM_145239.3(PRRT2):c.37G>A (p.Gly13Arg) rs770164221
NM_145239.3(PRRT2):c.381G>A (p.Glu127=) rs747609927
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala) rs79182085
NM_145239.3(PRRT2):c.415G>A (p.Ala139Thr) rs763634807
NM_145239.3(PRRT2):c.417T>C (p.Ala139=) rs1596891097
NM_145239.3(PRRT2):c.431C>T (p.Pro144Leu) rs1317648011
NM_145239.3(PRRT2):c.433dup (p.Arg145fs) rs796052944
NM_145239.3(PRRT2):c.449dup (p.Thr151fs)
NM_145239.3(PRRT2):c.460C>T (p.Pro154Ser) rs571941412
NM_145239.3(PRRT2):c.522T>G (p.Ser174Arg) rs777955072
NM_145239.3(PRRT2):c.525del (p.Glu177fs) rs1596891528
NM_145239.3(PRRT2):c.577dup (p.Glu193fs) rs1131692000
NM_145239.3(PRRT2):c.580G>A (p.Glu194Lys) rs139516010
NM_145239.3(PRRT2):c.582G>C (p.Glu194Asp) rs794727310
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.618A>T (p.Lys206Asn) rs1555502715
NM_145239.3(PRRT2):c.619_621del (p.Lys207del) rs768603598
NM_145239.3(PRRT2):c.623C>T (p.Ser208Phe) rs201409113
NM_145239.3(PRRT2):c.629dup (p.Ala211fs) rs730882067
NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro) rs745594874
NM_145239.3(PRRT2):c.641_642insA (p.Arg217fs)
NM_145239.3(PRRT2):c.642C>A (p.Ala214=) rs1237572544
NM_145239.3(PRRT2):c.645C>T (p.Pro215=) rs183683129
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_145239.3(PRRT2):c.648C>G (p.Pro216=) rs772805935
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys) rs140383655
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter) rs387907126
NM_145239.3(PRRT2):c.751= (p.Leu251=) rs11150573
NM_145239.3(PRRT2):c.755C>G (p.Ala252Gly) rs1053144630
NM_145239.3(PRRT2):c.769_778del (p.Glu257fs) rs886041960
NM_145239.3(PRRT2):c.774G>T (p.Gly258=)
NM_145239.3(PRRT2):c.811C>G (p.Leu271Val) rs1596892978
NM_145239.3(PRRT2):c.823T>C (p.Ser275Pro) rs1064793238
NM_145239.3(PRRT2):c.85G>A (p.Glu29Lys) rs1555502574
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.866C>T (p.Ala289Val) rs1446585759
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+6C>A rs201887920
NM_145239.3(PRRT2):c.880-20A>T rs727504110
NM_145239.3(PRRT2):c.880-34G>A
NM_145239.3(PRRT2):c.912C>T (p.Asp304=) rs759633234
NM_145239.3(PRRT2):c.913G>A (p.Gly305Arg) rs767799831
NM_145239.3(PRRT2):c.916G>A (p.Ala306Thr) 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.931C>T (p.Arg311Trp) rs760521217
NM_145239.3(PRRT2):c.93A>G (p.Glu31=) rs1315799003
NM_145239.3(PRRT2):c.960G>A (p.Ala320=) rs753833531
NM_145239.3(PRRT2):c.961C>T (p.Leu321=) rs756741951
NM_145239.3(PRRT2):c.963_978delinsTA (p.Val322fs)
NM_145239.3(PRRT2):c.970G>A (p.Gly324Arg)
NM_145239.3(PRRT2):c.971G>C (p.Gly324Ala) rs796052938
NM_145239.3(PRRT2):c.971del (p.Gly324fs) rs796052941
NM_145239.3(PRRT2):c.971dup (p.Val325fs)
NM_145239.3(PRRT2):c.99C>T (p.Gly33=) rs1235109136

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