ClinVar Miner

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

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

Total variants with conflicting interpretations: 11

NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser) rs62638745
NM_000371.3(TTR):c.386C>T (p.Ala129Val) rs121918092
NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro) rs747431002
NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala) rs756272252
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe) rs760040670
NM_000477.7(ALB):c.725G>A (p.Arg242His) rs75002628
NM_001072.4(UGT1A6):c.1195A>G (p.Asn399Asp) rs28934877
NM_001211.5(BUB1B):c.2441G>A (p.Arg814His) rs28989182
NM_001211.5(BUB1B):c.2763G>C (p.Gln921His) rs28989183
NM_003465.3(CHIT1):c.304G>A (p.Gly102Ser) rs2297950
NM_213599.2(ANO5):c.1640G>A (p.Arg547Gln) rs139618850

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