ClinVar Miner

List of variants reported as benign for amyotrophic lateral sclerosis type 21 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_018834.6(MATR3):c.1602+6A>G rs80036770 0.01434
NM_018834.6(MATR3):c.1347C>T (p.Ala449=) rs141986556 0.00120
NM_018834.6(MATR3):c.291A>G (p.Leu97=) rs147239107 0.00034
NM_018834.6(MATR3):c.1130-5T>A rs188905656 0.00033
NM_018834.6(MATR3):c.1893C>T (p.Ser631=) rs143527811 0.00033
NM_018834.6(MATR3):c.1183-5G>A rs369464069 0.00028
NM_018834.6(MATR3):c.1130-4A>G rs371701183 0.00027
NM_018834.6(MATR3):c.1435-20G>A rs75623350 0.00027
NM_018834.6(MATR3):c.2284G>A (p.Ala762Thr) rs148487997 0.00019
NM_018834.6(MATR3):c.2283C>T (p.Asn761=) rs189752689 0.00014
NM_018834.6(MATR3):c.2191T>C (p.Leu731=) rs149714542 0.00004
NM_018834.6(MATR3):c.2494-14C>A rs779597861 0.00003
NM_018834.6(MATR3):c.1603-17T>C rs199789148
NM_018834.6(MATR3):c.1778+19del rs753454728
NM_018834.6(MATR3):c.1779-20GT[2] rs779005896
NM_018834.6(MATR3):c.2494-12_2494-11del rs756391139

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