List of variants in gene SLC20A2 reported as pathogenic for basal ganglia disorder

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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: 23

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HGVS	dbSNP	gnomAD frequency
NG_032161.2:g.(87059_102191)_(118197_128986)del
NM_001257180.2(SLC20A2):c.1144C>T (p.Arg382Ter)	rs2131006903
NM_001257180.2(SLC20A2):c.1158C>G (p.Tyr386Ter)
NM_001257180.2(SLC20A2):c.136C>T (p.Gln46Ter)	rs751093906
NM_001257180.2(SLC20A2):c.1375G>T (p.Glu459Ter)	rs1563452941
NM_001257180.2(SLC20A2):c.1438_1439del (p.Ala480fs)
NM_001257180.2(SLC20A2):c.1492G>A (p.Gly498Arg)	rs1586022262
NM_001257180.2(SLC20A2):c.1637_1638del (p.Thr546fs)
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys)	rs387906653
NM_001257180.2(SLC20A2):c.1723G>T (p.Glu575Ter)	rs387906653
NM_001257180.2(SLC20A2):c.1784C>T (p.Thr595Met)	rs387906654
NM_001257180.2(SLC20A2):c.1802C>G (p.Ser601Trp)	rs387906652
NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu)	rs387906652
NM_001257180.2(SLC20A2):c.1828_1831del (p.Ser610fs)	rs398122396
NM_001257180.2(SLC20A2):c.185T>C (p.Leu62Pro)
NM_001257180.2(SLC20A2):c.290-8A>G
NM_001257180.2(SLC20A2):c.509del (p.Ile169_Leu170insTer)	rs398122395
NM_001257180.2(SLC20A2):c.583_584del (p.Val195fs)	rs398122397
NM_001257180.2(SLC20A2):c.58_62del (p.Ala21fs)
NM_001257180.2(SLC20A2):c.731-18_738del	rs1234999465
NM_001257180.2(SLC20A2):c.80_92del (p.Asn27fs)	rs2131228068
NM_001257180.2(SLC20A2):c.935-2A>G	rs1586025869
NM_001257180.2(SLC20A2):c.99del (p.Phe33fs)	rs1807706006

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