ClinVar Miner

List of variants in gene POMT2 reported as likely pathogenic for not provided

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.551C>T (p.Thr184Met) rs267606971 0.00003
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys) rs587780423 0.00002
NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser) rs267606970 0.00001
NM_013382.7(POMT2):c.1213_1228del (p.Phe405fs)
NM_013382.7(POMT2):c.1603del (p.Gln535fs) rs786205625
NM_013382.7(POMT2):c.1653+1G>A
NM_013382.7(POMT2):c.1658dup (p.Asn553fs) rs886043110
NM_013382.7(POMT2):c.1712dup (p.Ile572fs) rs780725241
NM_013382.7(POMT2):c.1764_1765del (p.Val589fs) rs1555351889
NM_013382.7(POMT2):c.1863_1864del (p.Ala623fs) rs1555351849
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter) rs1452558347
NM_013382.7(POMT2):c.2206del (p.Gln736fs) rs774412117
NM_013382.7(POMT2):c.333+1G>A
NM_013382.7(POMT2):c.559C>T (p.Leu187Phe) rs398124265

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