List of variants in gene combination GALNS, LOC126862447 reported as uncertain significance for carbohydrate metabolism disease

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

Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_000512.5(GALNS):c.1482+4A>G	rs377407678	0.00026
NM_000512.5(GALNS):c.1375G>A (p.Ala459Thr)	rs750739641	0.00009
NM_000512.5(GALNS):c.1475C>T (p.Ala492Val)	rs141171091	0.00004
NM_000512.5(GALNS):c.1441C>T (p.Pro481Ser)	rs781512359	0.00001
NM_000512.5(GALNS):c.1471T>C (p.Trp491Arg)	rs753344649	0.00001
NM_000512.5(GALNS):c.1480A>G (p.Met494Val)	rs1401175486	0.00001
NM_000512.5(GALNS):c.1408T>C (p.Ser470Pro)	rs2142982603
NM_000512.5(GALNS):c.1410G>A (p.Ser470=)	rs763263800
NM_000512.5(GALNS):c.1418A>G (p.Gln473Arg)	rs1909825123
NM_000512.5(GALNS):c.1423C>A (p.His475Asn)	rs749297663
NM_000512.5(GALNS):c.1427A>C (p.Gln476Pro)	rs1597524240
NM_000512.5(GALNS):c.1429_1455del (p.Glu477_Gln485del)	rs1909818289
NM_000512.5(GALNS):c.1450C>T (p.Pro484Ser)	rs1204485789
NM_000512.5(GALNS):c.1451C>T (p.Pro484Leu)	rs1482155729
NM_000512.5(GALNS):c.1460A>G (p.Asn487Ser)	rs118204440
NM_000512.5(GALNS):c.1460A>T (p.Asn487Ile)	rs118204440
NM_000512.5(GALNS):c.1461C>A (p.Asn487Lys)	rs1273463889
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)	rs760300454
NM_000512.5(GALNS):c.1481T>C (p.Met494Thr)	rs2142982062
NM_000512.5(GALNS):c.1482+1G>A	rs2142982054
NM_000512.5(GALNS):c.1482+5G>A	rs2142982032
NM_000512.5(GALNS):c.1482+5G>C

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