ClinVar Miner

List of variants reported as not provided for DNA repair disease by GenomeConnect, ClinGen

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe) rs61756147 0.00021
NM_005732.4(RAD50):c.2840T>C (p.Ile947Thr) rs150401251 0.00009
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu) rs374537936 0.00004
NM_002485.5(NBN):c.721G>A (p.Ala241Thr) rs587781333 0.00004
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000179.3(MSH6):c.905G>A (p.Arg302Lys) rs587781510 0.00001
GRCh37/hg19 16q24.3(chr16:89874496-89888566)x1
GRCh37/hg19 17q21.31(chr17:41230488-41235856)x3
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs) rs397508010
NM_000535.7(PMS2):c.1012C>G (p.Pro338Ala) rs876660508
NM_000535.7(PMS2):c.251-10T>A rs1554304817
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter) rs886039480
NM_032444.4(SLX4):c.2944G>T (p.Asp982Tyr) rs753733757

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