ClinVar Miner

Variants with conflicting interpretations "uncertain risk allele" and "uncertain significance"

Submission 1 (uncertain risk allele) minimum review status: Submission 1 (uncertain risk allele) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
ClinVar version:

Total variants with conflicting interpretations: 19

HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro) rs149096794 0.00163
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala) rs200054604 0.00048
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg) rs200586877 0.00017
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr) rs368957150 0.00012
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) rs146670741 0.00006
NM_000458.4(HNF1B):c.345-11T>G rs200782591 0.00001
NM_001378454.1(ALMS1):c.8117A>G (p.Glu2706Gly) rs768090632 0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907 0.00001
NM_170707.4(LMNA):c.953C>T (p.Ala318Val) rs1212920276 0.00001
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) rs775159300 0.00001
NM_175914.5(HNF4A):c.481A>G (p.Ser161Gly) rs779555087 0.00001
NM_000162.5(GCK):c.1310C>G (p.Thr437Ser) rs1185622190
NM_000162.5(GCK):c.463A>G (p.Arg155Gly) rs193922301
NM_000162.5(GCK):c.630G>T (p.Met210Ile) rs193922313
NM_000162.5(GCK):c.737G>C (p.Gly246Ala) rs1583596522
NM_000207.3(INS):c.292A>T (p.Ser98Cys) rs1252051752
NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del) rs556562410
NM_006412.4(AGPAT2):c.199G>A (p.Val67Met) rs563539429
NM_175914.5(HNF4A):c.101T>A (p.Val34Asp) rs2063496235

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