ClinVar Miner

Variants with conflicting interpretations "affects" and "benign"

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

Total variants with conflicting interpretations: 23

HGVS dbSNP gnomAD frequency
NM_002087.4(GRN):c.*78C>T rs5848 0.41298
NM_001104.4(ACTN3):c.1729C>T (p.Arg577Ter) rs1815739 0.36260
NM_021071.4(ART4):c.793G>A (p.Asp265Asn) rs11276 0.33901
NM_003465.3(CHIT1):c.304G>A (p.Gly102Ser) rs2297950 0.29831
NM_003465.3(CHIT1):c.1049_1072dup (p.Trp358Ter) rs3831317 0.16576
NM_001159387.2(B4GALNT2):c.1216T>C (p.Cys406Arg) rs7224888 0.12829
NM_002335.4(LRP5):c.2220C>T (p.Asn740=) rs2306862 0.11683
NM_033453.4(ITPA):c.124+21A>C rs7270101 0.09874
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) rs1800401 0.07659
NM_020208.4(SLC6A20):c.596C>T (p.Thr199Met) rs17279437 0.06722
NM_033453.4(ITPA):c.94C>A (p.Pro32Thr) rs1127354 0.06104
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln) rs1800407 0.04917
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) rs1805007 0.04832
NM_001142864.4(PIEZO1):c.6734G>A (p.Arg2245Gln) rs2290901 0.01007
NM_001159387.2(B4GALNT2):c.1387C>T (p.Arg463Trp) rs61743617 0.00910
NM_181776.3(SLC36A2):c.260G>T (p.Gly87Val) rs77010315 0.00869
NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser) rs62638745 0.00627
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.7219G>C (p.Glu2407Gln)
NM_020469.2(ABO):c.261delG (p.Thr88Profs) rs1556058284
NM_020469.3(ABO):c.106dup (p.Val36fs) rs782544248
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser) rs75309308

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