ClinVar Miner

List of variants reported as benign for cardiomyopathy by Phosphorus, Inc.

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_004415.4(DSP):c.8472G>C (p.Gly2824=) rs2744380 0.68624
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396 0.20175
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301 0.16610
NM_000152.5(GAA):c.921A>T (p.Ala307=) rs1800303 0.11304
NM_021167.5(GATAD1):c.160G>A (p.Gly54Ser) rs10281879 0.10561
NM_000152.5(GAA):c.1374C>T (p.Tyr458=) rs1800305 0.10079
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314 0.05752
NM_000152.5(GAA):c.*3G>A rs1800317 0.05534
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315 0.04402
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_000018.4(ACADVL):c.128G>A (p.Gly43Asp) rs2230178 0.02763
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01003
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) rs148398509 0.00737
NM_002471.4(MYH6):c.2928+5G>A rs28730772 0.00172
NM_001267550.2(TTN):c.15561G>A (p.Leu5187=) rs779159076 0.00004
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_001267550.2(TTN):c.15561G>T (p.Leu5187=) rs779159076

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