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:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 76

HGVS	dbSNP	gnomAD frequency
NM_001104.4(ACTN3):c.1729C>T (p.Arg577Ter)	rs1815739	0.36260
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp)	rs1805008	0.04851
UGT1A1*6	rs4148323	0.00891
NM_001142864.4(PIEZO1):c.7174G>A (p.Glu2392Lys)	rs528448732	0.00048
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)	rs387906309	0.00046
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)	rs28939086	0.00021
NM_000520.6(HEXA):c.1073+1G>A	rs76173977	0.00021
NM_000441.2(SLC26A4):c.919-2A>G	rs111033313	0.00018
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)	rs111033307	0.00008
NM_001025389.2(AMPD3):c.1717C>T (p.Arg573Cys)	rs3741040	0.00008
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)	rs111033305	0.00006
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser)	rs111033308	0.00006
NM_000520.6(HEXA):c.460-1G>T	rs764343937	0.00005
NM_004827.3(ABCG2):c.791_792del (p.Leu264fs)	rs387906870	0.00005
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met)	rs111033220	0.00004
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter)	rs121907962	0.00004
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)	rs121908363	0.00003
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys)	rs121907958	0.00003
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys)	rs763006761	0.00002
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter)	rs72551349	0.00002
NM_000520.6(HEXA):c.1421+1G>C	rs147324677	0.00002
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr)	rs111033257	0.00001
NM_000441.2(SLC26A4):c.1707+5G>A	rs192366176	0.00001
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)	rs200455203	0.00001
NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu)	rs749013429	0.00001
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser)	rs1060499808	0.00001
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val)	rs760413427	0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)	rs111033348	0.00001
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter)	rs121907963	0.00001
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)	rs121907952	0.00001
NM_000520.6(HEXA):c.1A>G (p.Met1Val)	rs121907965	0.00001
NM_000520.6(HEXA):c.346+1G>C	rs797044432	0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)	rs121907972	0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln)	rs121907957	0.00001
NC_000016.10:g.(?_72054504)_(?_72076977)del
NM_000202.8(IDS):c.1006+1G>A	rs869025308
NM_000202.8(IDS):c.1122C>T (p.Gly374=)	rs113993948
NM_000202.8(IDS):c.1181-1G>A	rs864622777
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)	rs199422231
NM_000202.8(IDS):c.253G>A (p.Ala85Thr)	rs113993949
NM_000202.8(IDS):c.263G>A (p.Arg88His)	rs2089497431
NM_000202.8(IDS):c.514C>T (p.Arg172Ter)	rs104894860
NM_000202.8(IDS):c.692C>T (p.Pro231Leu)	rs2089450305
NM_000202.8(IDS):c.998C>T (p.Ser333Leu)	rs104894853
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.1262A>T (p.Gln421Leu)	rs201660407
NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys)	rs1554359670
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.2074T>C (p.Phe692Leu)	rs1399914687
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.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_000463.3(UGT1A1):c.686C>A (p.Pro229Gln)	rs35350960
NM_000520.4(HEXA):c.-2564_253+5128delinsG
NM_000520.6(HEXA):c.1176G>A (p.Trp392Ter)	rs267606862
NM_000520.6(HEXA):c.1510del (p.Arg504fs)	rs797044433
NM_000520.6(HEXA):c.346+1G>A	rs797044432
NM_000520.6(HEXA):c.380T>G (p.Leu127Arg)	rs121907975
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer)	rs1057519458
NM_000520.6(HEXA):c.477_478del (p.Glu160fs)
NM_000520.6(HEXA):c.546dup (p.Leu183fs)	rs1595801740
NM_000520.6(HEXA):c.629C>T (p.Ser210Phe)	rs121907961
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter)	rs121907964
NM_000520.6(HEXA):c.805+1G>A	rs121907980
NM_000520.6(HEXA):c.902T>G (p.Met301Arg)	rs121907977
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del)	rs121907960
NM_000520.6(HEXA):c.929_930del (p.Ser310fs)	rs751248523
NM_000574.5(CD55):c.261G>A (p.Trp87Ter)	rs121909603
NM_001384359.1(FUT1):c.725T>G (p.Leu242Arg)	rs28934588
UGT1A1*28	rs3064744

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