ClinVar Miner

Variants with conflicting interpretations "pathogenic" and "affects"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (affects) minimum review status: Submission 2 (affects) method:
ClinVar version:

Total variants with conflicting interpretations: 50

HGVS dbSNP
HP, DEL
NM_000121.4(EPOR):c.1317G>A (p.Trp439Ter) rs121918116
NM_000148.3(FUT1):c.725T>G (p.Leu242Arg) rs28934588
NM_000441.1(SLC26A4):c.578C>T rs111033348
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1105A>G (p.Lys369Glu) rs121908361
NM_000441.2(SLC26A4):c.1115C>T (p.Ala372Val) rs121908364
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro) rs1554360358
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser) rs786204739
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys) rs763006761
NM_000441.2(SLC26A4):c.1707+5G>A rs192366176
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203
NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu) rs749013429
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser) rs1060499808
NM_000441.2(SLC26A4):c.2074T>C (p.Phe692Leu) rs1399914687
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363
NM_000441.2(SLC26A4):c.226C>T (p.Pro76Ser) rs1554352676
NM_000441.2(SLC26A4):c.296C>G (p.Thr99Arg) rs141142414
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr) rs121908365
NM_000441.2(SLC26A4):c.601-1G>A rs1554355011
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.82A>G (p.Ser28Gly) rs1554352234
NM_000441.2(SLC26A4):c.919-2A>G rs111033313
NM_000480.3(AMPD3):c.1744C>T (p.Arg582Cys) rs3741040
NM_001072.4(UGT1A6):c.1018C>T (p.Arg340Ter) rs72551349
NM_001072.4(UGT1A6):c.1195A>G (p.Asn399Asp) rs28934877
NM_001072.4(UGT1A6):c.862-6061C>A rs35350960
NM_001104.4(ACTN3):c.1729C>T (p.Arg577Ter) rs1815739
NM_001128628.2(BUB1B-PAK6):c.-201+2974T>C rs28989185
NM_001211.5(BUB1B):c.1402-1G>T rs1566824774
NM_001211.5(BUB1B):c.1402-5A>G rs1566824771
NM_001211.5(BUB1B):c.1649G>A (p.Arg550Gln) rs28989187
NM_001211.5(BUB1B):c.1833del (p.Phe611fs) rs1566826570
NM_001211.5(BUB1B):c.2208_2211dup (p.Ser738fs) rs1392909108
NM_001211.5(BUB1B):c.2386-11A>G rs751421137
NM_001211.5(BUB1B):c.2441G>A (p.Arg814His) rs28989182
NM_001211.5(BUB1B):c.2530C>T (p.Leu844Phe) rs28989181
NM_001211.5(BUB1B):c.2763G>C (p.Gln921His) rs28989183
NM_001211.5(BUB1B):c.580C>T (p.Arg194Ter) rs28989186
NM_002386.3(MC1R):c.451C>T (p.Arg151Cys) rs1805007
NM_002386.3(MC1R):c.478C>T (p.Arg160Trp) rs1805008
NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) rs77375493
UGT1A1*28 rs3064744
UGT1A1*6 rs4148323

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