ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Gharavi Laboratory, Columbia University and "pathogenic" from Invitae

Minimum review status of the submission from Gharavi Laboratory, Columbia University: Collection method of the submission from Gharavi Laboratory, Columbia University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 16
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter) rs770073633 0.00001
NM_000069.3(CACNA1S):c.3988del (p.Leu1330fs) rs757045433 0.00001
NM_000478.6(ALPL):c.994G>T (p.Glu332Ter) rs768976020 0.00001
NM_001003841.3(SLC6A19):c.728del (p.Thr243fs) rs1561165786 0.00001
NM_000063.6(C2):c.1102C>T (p.Arg368Ter) rs866130958
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) rs550371466
NM_000124.4(ERCC6):c.809del (p.Gly270fs) rs923535659
NM_000210.4(ITGA6):c.400C>T (p.Arg134Ter) rs866151033
NM_001041.4(SI):c.2654_2657del (p.Asp885fs) rs1221816681
NM_001177316.2(SLC34A3):c.944del (p.Gly315fs) rs1473689787
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs) rs1561601398
NM_003193.5(TBCE):c.841C>T (p.Gln281Ter) rs752790319
NM_005562.3(LAMC2):c.3328+1G>A rs1475860578
NM_025074.7(FRAS1):c.2571del (p.Ala856_Cys857insTer) rs1560681144
NM_203486.3(DLL3):c.529_535del (p.Arg177fs) rs1452482256
NM_207361.6(FREM2):c.7002_7005del (p.Glu2335fs) rs768342700

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