ClinVar Miner

Variants with conflicting interpretations "pathogenic" and "likely risk allele"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely risk allele) minimum review status: Submission 2 (likely risk allele) method:
ClinVar version:

Total variants with conflicting interpretations: 18

HGVS dbSNP gnomAD frequency
NM_000354.5(SERPINA7):c.909G>T (p.Leu303Phe) rs1804495 0.11690
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) rs73885319 0.06773
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_002582.4(PARN):c.1749_1750del (p.Glu585fs) rs1194089098 0.00006
NM_000207.3(INS):c.16C>T (p.Arg6Cys) rs121908278 0.00003
NM_000162.5(GCK):c.608T>C (p.Val203Ala) rs1562717053
NM_000207.3(INS):c.143T>G (p.Phe48Cys) rs80356668
NM_000207.3(INS):c.188-31G>A rs797045623
NM_000207.3(INS):c.71C>A (p.Ala24Asp) rs80356663
NM_000545.8(HNF1A):c.1330_1331del (p.Gln444fs) rs776793516
NM_000545.8(HNF1A):c.620G>A (p.Gly207Asp) rs1555211922
NM_001283009.2(RTEL1):c.1451C>T (p.Pro484Leu) rs786205700
NM_001283009.2(RTEL1):c.3371A>C (p.His1124Pro) rs786205702
NM_001283009.2(RTEL1):c.602del (p.Gly201fs) rs863223336
NM_002582.4(PARN):c.563dup (p.Glu189fs) rs878853260
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) rs71785313
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln) rs2066044949
NM_014009.4(FOXP3):c.1040G>A (p.Arg347His) rs1557115786

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