ClinVar Miner

List of variants reported as benign by Phosphorus, Inc.

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ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000642.3(AGL):c.894C>T (p.Leu298=) rs2230306 0.76251
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_000642.3(AGL):c.2812+11G>A rs555929 0.65828
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_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901 0.49457
NM_003060.4(SLC22A5):c.285T>C (p.Leu95=) rs2631365 0.42203
NM_000642.3(AGL):c.-10A>G rs2307130 0.41188
NM_003060.4(SLC22A5):c.807A>G (p.Leu269=) rs274558 0.39440
NM_004006.3(DMD):c.5234G>A (p.Arg1745His) rs1801187 0.36912
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396 0.20175
NM_001377540.1(SLMAP):c.828+11C>A rs2306056 0.19942
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301 0.16610
NM_004006.3(DMD):c.7728T>C (p.Asn2576=) rs1801188 0.15883
NM_000098.3(CPT2):c.1939A>G (p.Met647Val) rs1799822 0.15237
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_004006.3(DMD):c.1635A>G (p.Arg545=) rs5927083 0.12751
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_000642.3(AGL):c.686A>G (p.Gln229Arg) rs17121403 0.04398
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp) rs1800278 0.02976
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val) rs41305353 0.02876
NM_000018.4(ACADVL):c.128G>A (p.Gly43Asp) rs2230178 0.02763
NM_000506.5(F2):c.79+7G>A rs3136431 0.02419
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291 0.01469
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01003
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) rs148398509 0.00737
NM_001148.6(ANK2):c.2377-8C>T rs139893914 0.00682
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
NM_003060.4(SLC22A5):c.652+6= rs4551059
NM_004006.3(DMD):c.94-9dup rs3834997

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