ClinVar Miner

Variants with conflicting interpretations "affects" and "uncertain significance"

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

Total variants with conflicting interpretations: 33

HGVS dbSNP gnomAD frequency
NM_003465.3(CHIT1):c.304G>A (p.Gly102Ser) rs2297950 0.29831
NM_000150.4(FUT6):c.739G>A (p.Glu247Lys) rs17855739 0.11967
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04851
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) rs1805007 0.04832
NM_181776.3(SLC36A2):c.260G>T (p.Gly87Val) rs77010315 0.00869
NM_003465.3(CHIT1):c.220G>A (p.Glu74Lys) rs137852607 0.00342
NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp) rs149202834 0.00166
NM_001142864.4(PIEZO1):c.7180G>A (p.Gly2394Ser) rs201950081 0.00109
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_001142864.4(PIEZO1):c.7174G>A (p.Glu2392Lys) rs528448732 0.00048
NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys) rs75731670 0.00024
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_000550.3(TYRP1):c.277C>T (p.Arg93Cys) rs387907171 0.00018
NM_005689.4(ABCB6):c.717G>A (p.Trp239Ter) rs148458820 0.00014
NM_001735.3(C5):c.2653C>T (p.Arg885Cys) rs373359894 0.00008
NM_004827.3(ABCG2):c.791_792del (p.Leu264fs) rs387906870 0.00005
NM_017436.7(A4GALT):c.752C>T (p.Pro251Leu) rs28940571 0.00005
NM_000420.3(KEL):c.1720G>A (p.Ala574Thr) rs767893228 0.00003
NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro) rs747431002 0.00003
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe) rs760040670 0.00002
NM_153033.5(KCTD7):c.458G>A (p.Arg153His) rs765235486 0.00002
NM_000520.6(HEXA):c.1351C>G (p.Leu451Val) rs28940871 0.00001
NM_006563.5(KLF1):c.954G>C (p.Trp318Cys) rs769526751 0.00001
Multiple alleles
NM_000420.3(KEL):c.2065G>T (p.Asp689Tyr) rs144613404
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000520.6(HEXA):c.1074-7_1074-3del rs759219683
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg) rs121907968
NM_000520.6(HEXA):c.611A>G (p.His204Arg) rs121907976
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_001142864.4(PIEZO1):c.7219G>A (p.Glu2407Lys)
NM_001142864.4(PIEZO1):c.7219G>C (p.Glu2407Gln)
UGT1A1*28 rs3064744

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