List of variants in gene combination POMGNT1, TSPAN1 reported as benign for congenital nervous system disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val)	rs6659553	0.94881
NM_017739.4(POMGNT1):c.1027-44A>G	rs7527668	0.37971
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=)	rs2292487	0.34915
NM_017739.4(POMGNT1):c.951-52A>G	rs7527935	0.34868
NM_017739.4(POMGNT1):c.1212-66T>C	rs2292484	0.34786
NM_017739.4(POMGNT1):c.1212-81C>T	rs2292485	0.34766
NM_017739.4(POMGNT1):c.1895+30A>G	rs113174528	0.05532
NM_017739.4(POMGNT1):c.1867= (p.Met623=)	rs6659553	0.05119
NM_017739.4(POMGNT1):c.1111-23C>T	rs2292486	0.02728
NM_017739.4(POMGNT1):c.1540-16C>T	rs10493123	0.02014
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=)	rs41292143	0.01062
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)	rs74374973	0.00994
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met)	rs146097254	0.00280
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile)	rs17102066	0.00264
NM_017739.4(POMGNT1):c.1111-9C>T	rs757533535	0.00006
NM_017739.4(POMGNT1):c.1026+19del	rs762531635
NM_017739.4(POMGNT1):c.1026+19dup
NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg)	rs747723242
NM_017739.4(POMGNT1):c.535-3del

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