ClinVar Miner

List of variants in gene PRPF3 reported as uncertain significance for not provided

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Gene type:
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Total variants: 138
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HGVS dbSNP gnomAD frequency
NM_004698.4(PRPF3):c.1032A>G (p.Thr344=) rs143350315 0.00036
NM_004698.4(PRPF3):c.501A>G (p.Thr167=) rs146995242 0.00019
NM_004698.4(PRPF3):c.1328A>G (p.Lys443Arg) rs907184088 0.00009
NM_004698.4(PRPF3):c.957T>C (p.Pro319=) rs199721048 0.00009
NM_004698.4(PRPF3):c.1204A>G (p.Thr402Ala) rs142080861 0.00007
NM_004698.4(PRPF3):c.1094A>G (p.His365Arg) rs782314899 0.00004
NM_004698.4(PRPF3):c.937C>T (p.Pro313Ser) rs1489549828 0.00004
NM_004698.4(PRPF3):c.1985A>G (p.Lys662Arg) rs782229642 0.00003
NM_004698.4(PRPF3):c.247A>G (p.Ser83Gly) rs199638866 0.00003
NM_004698.4(PRPF3):c.539G>A (p.Arg180Gln) rs375363471 0.00002
NM_004698.4(PRPF3):c.857G>A (p.Arg286His) rs782599446 0.00002
NM_004698.4(PRPF3):c.1190A>G (p.Asn397Ser) rs782428898 0.00001
NM_004698.4(PRPF3):c.1258C>T (p.His420Tyr) rs1452433223 0.00001
NM_004698.4(PRPF3):c.1282+6G>A rs781919931 0.00001
NM_004698.4(PRPF3):c.1287C>G (p.Asp429Glu) rs782511773 0.00001
NM_004698.4(PRPF3):c.128A>G (p.Asp43Gly) rs375882146 0.00001
NM_004698.4(PRPF3):c.1304C>G (p.Thr435Ser) rs1160984185 0.00001
NM_004698.4(PRPF3):c.1334A>G (p.Gln445Arg) rs373571735 0.00001
NM_004698.4(PRPF3):c.145+6T>C rs1363821930 0.00001
NM_004698.4(PRPF3):c.1546G>A (p.Ala516Thr) rs1658084153 0.00001
NM_004698.4(PRPF3):c.1631C>T (p.Ser544Phe) rs1413680618 0.00001
NM_004698.4(PRPF3):c.1699C>G (p.Leu567Val) rs1553872875 0.00001
NM_004698.4(PRPF3):c.1883A>G (p.Asn628Ser) rs782767887 0.00001
NM_004698.4(PRPF3):c.1891G>A (p.Val631Ile) rs782042725 0.00001
NM_004698.4(PRPF3):c.1922G>A (p.Arg641Gln) rs201590000 0.00001
NM_004698.4(PRPF3):c.266G>A (p.Arg89Gln) rs782194993 0.00001
NM_004698.4(PRPF3):c.493C>T (p.Pro165Ser) rs782509534 0.00001
NM_004698.4(PRPF3):c.947C>T (p.Ser316Phe) rs375374507 0.00001
NM_004698.4(PRPF3):c.949A>C (p.Ile317Leu) rs1246574143 0.00001
NM_004698.4(PRPF3):c.988C>T (p.His330Tyr) rs781809037 0.00001
NM_004698.4(PRPF3):c.1027C>T (p.Arg343Trp)
NM_004698.4(PRPF3):c.1035+5C>T rs1656839327
NM_004698.4(PRPF3):c.1117A>G (p.Ile373Val)
NM_004698.4(PRPF3):c.1128G>C (p.Lys376Asn) rs1274839626
NM_004698.4(PRPF3):c.1132G>A (p.Glu378Lys)
NM_004698.4(PRPF3):c.1133A>G (p.Glu378Gly)
NM_004698.4(PRPF3):c.1151T>C (p.Ile384Thr) rs1657267180
NM_004698.4(PRPF3):c.115G>A (p.Gly39Arg)
NM_004698.4(PRPF3):c.1164G>A (p.Glu388=)
NM_004698.4(PRPF3):c.1180A>C (p.Ile394Leu) rs2101990462
NM_004698.4(PRPF3):c.1180A>G (p.Ile394Val)
NM_004698.4(PRPF3):c.11C>T (p.Ser4Leu) rs2101943440
NM_004698.4(PRPF3):c.1205C>G (p.Thr402Arg)
NM_004698.4(PRPF3):c.1227_1228delinsTT (p.Glu409_Asp410delinsAspTyr)
NM_004698.4(PRPF3):c.1231T>A (p.Tyr411Asn)
NM_004698.4(PRPF3):c.1249C>A (p.Leu417Ile) rs141281367
NM_004698.4(PRPF3):c.1277C>T (p.Pro426Leu)
NM_004698.4(PRPF3):c.1279C>T (p.Pro427Ser)
NM_004698.4(PRPF3):c.127G>A (p.Asp43Asn)
NM_004698.4(PRPF3):c.1311A>G (p.Gly437=)
NM_004698.4(PRPF3):c.1313T>C (p.Val438Ala)
NM_004698.4(PRPF3):c.1340A>G (p.Lys447Arg) rs1560112553
NM_004698.4(PRPF3):c.1349G>A (p.Arg450Lys) rs2102010005
NM_004698.4(PRPF3):c.1381C>G (p.Gln461Glu)
NM_004698.4(PRPF3):c.1399G>T (p.Gly467Cys)
NM_004698.4(PRPF3):c.1406T>A (p.Met469Lys)
NM_004698.4(PRPF3):c.1411C>T (p.Pro471Ser)
NM_004698.4(PRPF3):c.1413T>C (p.Pro471=)
NM_004698.4(PRPF3):c.1426+3G>T rs2102010164
NM_004698.4(PRPF3):c.1426+4C>T
NM_004698.4(PRPF3):c.1426G>A (p.Val476Met) rs886044817
NM_004698.4(PRPF3):c.145+4T>A
NM_004698.4(PRPF3):c.1464A>C (p.Glu488Asp) rs142253030
NM_004698.4(PRPF3):c.1489G>A (p.Glu497Lys) rs1658062522
NM_004698.4(PRPF3):c.1525_1526+1dup
NM_004698.4(PRPF3):c.1529C>G (p.Ala510Gly)
NM_004698.4(PRPF3):c.1562CAG[1] (p.Ala522del) rs1658084978
NM_004698.4(PRPF3):c.1578G>C (p.Lys526Asn) rs1553872370
NM_004698.4(PRPF3):c.1618G>T (p.Gly540Trp)
NM_004698.4(PRPF3):c.1627A>G (p.Ile543Val)
NM_004698.4(PRPF3):c.1649A>G (p.Asn550Ser) rs1658242037
NM_004698.4(PRPF3):c.1655G>A (p.Ser552Asn)
NM_004698.4(PRPF3):c.1664C>T (p.Ala555Val)
NM_004698.4(PRPF3):c.1680T>G (p.Ile560Met) rs1553872870
NM_004698.4(PRPF3):c.169G>C (p.Asp57His)
NM_004698.4(PRPF3):c.1717G>T (p.Val573Leu)
NM_004698.4(PRPF3):c.1720G>A (p.Val574Ile)
NM_004698.4(PRPF3):c.1762C>T (p.Pro588Ser) rs1553872958
NM_004698.4(PRPF3):c.1775A>G (p.Lys592Arg)
NM_004698.4(PRPF3):c.1787G>T (p.Arg596Leu) rs782155481
NM_004698.4(PRPF3):c.1799A>G (p.His600Arg) rs1658279276
NM_004698.4(PRPF3):c.182G>A (p.Arg61Gln)
NM_004698.4(PRPF3):c.182G>C (p.Arg61Pro)
NM_004698.4(PRPF3):c.1831A>G (p.Thr611Ala)
NM_004698.4(PRPF3):c.1844-15A>C
NM_004698.4(PRPF3):c.1844-3C>T
NM_004698.4(PRPF3):c.1849GAG[1] (p.Glu618del) rs781837059
NM_004698.4(PRPF3):c.1855T>A (p.Ser619Thr)
NM_004698.4(PRPF3):c.1870G>A (p.Val624Met)
NM_004698.4(PRPF3):c.1905+6T>C
NM_004698.4(PRPF3):c.1991A>G (p.His664Arg) rs2102036234
NM_004698.4(PRPF3):c.2000A>T (p.Glu667Val)
NM_004698.4(PRPF3):c.2002C>T (p.His668Tyr)
NM_004698.4(PRPF3):c.2018C>G (p.Ala673Gly)
NM_004698.4(PRPF3):c.2026G>C (p.Glu676Gln)
NM_004698.4(PRPF3):c.2030C>T (p.Ser677Phe)
NM_004698.4(PRPF3):c.2037dup (p.Glu680fs) rs2102036388
NM_004698.4(PRPF3):c.2039A>G (p.Glu680Gly) rs1553874770
NM_004698.4(PRPF3):c.204G>C (p.Glu68Asp)
NM_004698.4(PRPF3):c.235T>G (p.Ser79Ala) rs2101946351
NM_004698.4(PRPF3):c.292G>A (p.Asp98Asn)
NM_004698.4(PRPF3):c.298G>C (p.Glu100Gln)
NM_004698.4(PRPF3):c.303C>G (p.Ile101Met)
NM_004698.4(PRPF3):c.335G>A (p.Arg112Gln)
NM_004698.4(PRPF3):c.344G>A (p.Arg115His)
NM_004698.4(PRPF3):c.366G>C (p.Glu122Asp) rs1553864412
NM_004698.4(PRPF3):c.367C>A (p.Pro123Thr)
NM_004698.4(PRPF3):c.424-20A>G
NM_004698.4(PRPF3):c.43A>G (p.Ile15Val)
NM_004698.4(PRPF3):c.487A>G (p.Ile163Val)
NM_004698.4(PRPF3):c.499A>G (p.Thr167Ala)
NM_004698.4(PRPF3):c.507+12A>G
NM_004698.4(PRPF3):c.507+6G>A
NM_004698.4(PRPF3):c.518C>T (p.Pro173Leu)
NM_004698.4(PRPF3):c.520T>C (p.Ser174Pro) rs1656586815
NM_004698.4(PRPF3):c.544C>T (p.Pro182Ser)
NM_004698.4(PRPF3):c.588G>A (p.Met196Ile)
NM_004698.4(PRPF3):c.590A>T (p.Asn197Ile)
NM_004698.4(PRPF3):c.601G>A (p.Glu201Lys) rs782390782
NM_004698.4(PRPF3):c.665G>A (p.Gly222Glu) rs1553866173
NM_004698.4(PRPF3):c.673G>A (p.Gly225Ser) rs961027754
NM_004698.4(PRPF3):c.714G>A (p.Met238Ile)
NM_004698.4(PRPF3):c.728C>T (p.Pro243Leu)
NM_004698.4(PRPF3):c.733G>A (p.Val245Met) rs1656810771
NM_004698.4(PRPF3):c.780G>C (p.Glu260Asp) rs80201355
NM_004698.4(PRPF3):c.814A>G (p.Ile272Val)
NM_004698.4(PRPF3):c.824C>T (p.Thr275Ile) rs2101978349
NM_004698.4(PRPF3):c.826C>T (p.His276Tyr)
NM_004698.4(PRPF3):c.830G>A (p.Arg277His) rs781846855
NM_004698.4(PRPF3):c.860C>T (p.Ala287Val)
NM_004698.4(PRPF3):c.922A>C (p.Asn308His)
NM_004698.4(PRPF3):c.926C>A (p.Thr309Asn) rs782644120
NM_004698.4(PRPF3):c.926C>T (p.Thr309Ile) rs782644120
NM_004698.4(PRPF3):c.937C>A (p.Pro313Thr) rs1489549828
NM_004698.4(PRPF3):c.953C>T (p.Ala318Val) rs781915422
NM_004698.4(PRPF3):c.959C>G (p.Ser320Cys) rs1553866975
NM_004698.4(PRPF3):c.959C>T (p.Ser320Phe)
NM_004698.4(PRPF3):c.974G>A (p.Arg325His)

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