ClinVar Miner

Variants with conflicting interpretations "likely benign" from Color Health, Inc and "likely pathogenic" from any submitter

Minimum review status of the submission from Color Health, Inc: Collection method of the submission from Color Health, Inc:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000527.4(LDLR):c.-97G>A rs944580031
NM_000527.4(LDLR):c.1060+9C>T rs540073140
NM_000527.4(LDLR):c.1167G>A (p.Thr389=) rs139066906
NM_000527.4(LDLR):c.1221C>T (p.His407=) rs778424518
NM_000527.4(LDLR):c.1381G>A (p.Gly461Ser) rs193922568
NM_000527.4(LDLR):c.82G>A (p.Glu28Lys) rs551747280
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.811G>A (p.Val271Ile) rs749220643

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