ClinVar Miner

List of variants reported as benign for Multiple congenital anomalies-hypotonia-seizures syndrome 1

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_176787.5(PIGN):c.685C>G (p.His229Asp) rs9320001 0.79552
NM_176787.5(PIGN):c.741C>T (p.His247=) rs9320000 0.56637
NM_176787.5(PIGN):c.344-30T>A rs1021953 0.52712
NM_176787.5(PIGN):c.1116+26G>A rs2298779 0.35890
NM_176787.5(PIGN):c.1023+18A>G rs12608212 0.31260
NM_176787.5(PIGN):c.2502+49A>G rs1560502 0.28608
NM_176787.5(PIGN):c.939T>C (p.Asn313=) rs34227891 0.24195
NM_176787.5(PIGN):c.806-7T>A rs61751989 0.21786
NM_176787.5(PIGN):c.1962G>A (p.Leu654=) rs12326381 0.17264
NM_176787.5(PIGN):c.1245T>C (p.Asp415=) rs13381627 0.17246
NM_176787.5(PIGN):c.2010T>C (p.Thr670=) rs17714063 0.17242
NM_176787.5(PIGN):c.1752G>A (p.Leu584=) rs9319997 0.17086
NM_176787.5(PIGN):c.1377T>C (p.Ser459=) rs17714875 0.16805
NM_176787.5(PIGN):c.1859+17A>G rs75516428 0.06372
NM_176787.5(PIGN):c.484A>G (p.Lys162Glu) rs17069506 0.04997
NM_176787.5(PIGN):c.2619+14G>A rs141117706 0.01868
NM_176787.5(PIGN):c.167C>T (p.Ala56Val) rs61755362 0.01101
NM_176787.5(PIGN):c.1488A>G (p.Ala496=) rs2298784 0.00911
NM_176787.5(PIGN):c.2712T>G (p.Phe904Leu) rs34231046 0.00853
NM_176787.5(PIGN):c.1251+11C>T rs141918272 0.00571
NM_176787.5(PIGN):c.964-20T>C rs148402610 0.00373
NM_176787.5(PIGN):c.309T>C (p.Ala103=) rs17069511 0.00346
NM_176787.5(PIGN):c.528G>A (p.Thr176=) rs144304758 0.00291
NM_176787.5(PIGN):c.1617T>C (p.Tyr539=) rs147306123 0.00282
NM_176787.5(PIGN):c.2503-14T>C rs200850641 0.00187
NM_176787.5(PIGN):c.2751G>T (p.Thr917=) rs200481058 0.00183
NM_176787.5(PIGN):c.2238A>G (p.Ile746Met) rs200658159 0.00117
NM_176787.5(PIGN):c.2022A>G (p.Leu674=) rs3764491 0.00049
NM_176787.5(PIGN):c.364G>C (p.Glu122Gln) rs200756305 0.00043
NM_176787.5(PIGN):c.963+11C>T rs186152849 0.00018
NM_176787.5(PIGN):c.213G>A (p.Pro71=) rs370553142 0.00014
NM_176787.5(PIGN):c.1748G>A (p.Arg583Gln) rs1244878709 0.00002
NM_176787.5(PIGN):c.1116+11_1116+12del
NM_176787.5(PIGN):c.1116+12del rs199971157
NM_176787.5(PIGN):c.1116+12dup rs199971157
NM_176787.5(PIGN):c.1117-1= rs9959632
NM_176787.5(PIGN):c.1173-16dup rs747759182
NM_176787.5(PIGN):c.1173-9del
NM_176787.5(PIGN):c.1252-9dup
NM_176787.5(PIGN):c.1408A>T (p.Ile470Leu) rs3862712
NM_176787.5(PIGN):c.1435-15del
NM_176787.5(PIGN):c.2427-20dup rs754102116
NM_176787.5(PIGN):c.2577-13dup rs138671843
NM_176787.5(PIGN):c.2577-5del rs138671843
NM_176787.5(PIGN):c.2620-17_2620-16dup rs11437076
NM_176787.5(PIGN):c.2620-17dup rs11437076
NM_176787.5(PIGN):c.2620-5del rs11437076
NM_176787.5(PIGN):c.922+13_922+16del rs144114585
NM_176787.5(PIGN):c.964-9dup rs2147171105

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