ClinVar Miner

List of variants reported for not specified by Broad Institute Rare Disease Group, Broad Institute

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533 0.00100
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_174936.4(PCSK9):c.1445A>G (p.Glu482Gly) rs141995194 0.00034
NM_000138.5(FBN1):c.5423-4G>A rs377036485 0.00026
NM_000251.3(MSH2):c.820A>G (p.Ile274Val) rs371944271 0.00008
NM_000053.4(ATP7B):c.4271A>G (p.Tyr1424Cys) rs372435824 0.00006
NM_000540.3(RYR1):c.2603G>A (p.Arg868His) rs750938678 0.00006
NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile) rs201174268 0.00005
NM_001035.3(RYR2):c.815G>T (p.Arg272Leu) rs377368967 0.00005
NM_000531.6(OTC):c.85C>G (p.Gln29Glu) rs752916728 0.00004
NM_000335.5(SCN5A):c.5747T>C (p.Leu1916Pro) rs765713843 0.00003
NM_001035.3(RYR2):c.1241G>A (p.Arg414His) rs371121679 0.00003
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg) rs80357108 0.00003
NM_000053.4(ATP7B):c.4232G>A (p.Arg1411Gln) rs769672624 0.00002
NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly) rs914460959 0.00001
NM_000268.4(NF2):c.1232G>A (p.Arg411His) rs201214090 0.00001
NM_007294.4(BRCA1):c.43A>C (p.Ile15Leu) rs80357031 0.00001
NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile) rs80357076 0.00001
NM_000335.5(SCN5A):c.3065C>A (p.Thr1022Asn) rs2061573479
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_001035.3(RYR2):c.5657dup (p.Lys1887fs) rs786205273
NM_005902.4(SMAD3):c.266G>A (p.Cys89Tyr) rs1962535460

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