ClinVar Miner

List of variants studied for breast disorder by Institute of Human Genetics, University of Goettingen

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.1372_1397dup (p.Gln466fs) rs2135320462
NM_000051.4(ATM):c.4381T>G (p.Trp1461Gly) rs982008501
NM_000051.4(ATM):c.4820del (p.Pro1607fs) rs2135834949
NM_000051.4(ATM):c.5918+14G>T rs2136020496
NM_000465.4(BARD1):c.2275_2276delinsAT (p.Pro759Ile) rs1692195261
NM_007194.4(CHEK2):c.743T>C (p.Ile248Thr) rs2053411134

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