ClinVar Miner

List of variants reported by Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995 0.00034
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg) rs145667735 0.00012
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn) rs199886166 0.00007
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr) rs370282831 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000051.4(ATM):c.2338A>T (p.Met780Leu) rs587781446 0.00002
NM_000051.4(ATM):c.3743A>G (p.Tyr1248Cys) rs766226370 0.00002
NM_000051.4(ATM):c.5938G>A (p.Gly1980Arg) rs786203765 0.00001
NM_000051.4(ATM):c.6976-6dup rs760058702 0.00001
NM_000059.4(BRCA2):c.4318A>G (p.Lys1440Glu) rs80358668 0.00001
NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala) rs377713277 0.00001
NM_000051.4(ATM):c.496+5G>A rs796051858
NM_000051.4(ATM):c.5053A>G (p.Thr1685Ala) rs879254205
NM_000051.4(ATM):c.5232G>C (p.Lys1744Asn) rs2083440178
NM_000051.4(ATM):c.5653dup (p.Thr1885fs) rs587778077
NM_000051.4(ATM):c.8941C>A (p.His2981Asn) rs1555151422
NM_000059.4(BRCA2):c.1964C>T (p.Pro655Leu) rs28897712
NM_000059.4(BRCA2):c.2672dup (p.Phe892fs) rs2072462600
NM_000059.4(BRCA2):c.314del (p.Asp104_Leu105insTer) rs1593882934
NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn) rs41293511
NM_004360.5(CDH1):c.1288G>C (p.Val430Leu) rs1960899829
NM_024675.4(PALB2):c.397A>G (p.Ser133Gly) rs730881881

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