ClinVar Miner

List of variants studied for ataxia-telangiectasia-like disorder by Mendelics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001195248.2(APTX):c.596G>A (p.Arg199His) rs150886026 0.00598
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs) rs587781442 0.00007
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter) rs587781384 0.00004
NM_001195248.2(APTX):c.484-3_484-2insTTTTTTTTTTTG rs1554664711
NM_005591.4(MRE11):c.1927-2A>G rs587781822
NM_182649.2(PCNA):c.443G>C (p.Cys148Ser) rs1274412848

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