List of variants in gene SLC20A2 reported as likely pathogenic for basal ganglia calcification, idiopathic, 1

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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: 18

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HGVS	dbSNP	gnomAD frequency
NM_001257180.2(SLC20A2):c.1703C>T (p.Pro568Leu)	rs763252801	0.00001
NM_001257180.2(SLC20A2):c.1794+1G>C	rs1052304545	0.00001
NC_000008.10:g.(42297172_42302163)_(42302281_42317413)del
NC_000008.10:g.(?_42275320)_(42297172_42302163)del
NM_001257180.2(SLC20A2):c.1196A>C (p.His399Pro)	rs1563453866
NM_001257180.2(SLC20A2):c.1520_1521del (p.Val507fs)	rs1563452322
NM_001257180.2(SLC20A2):c.165_169del (p.Glu55fs)	rs2131227624
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys)	rs387906653
NM_001257180.2(SLC20A2):c.1795-1G>A	rs1563431044
NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu)	rs387906652
NM_001257180.2(SLC20A2):c.1845C>G (p.Asp615Glu)	rs2130905407
NM_001257180.2(SLC20A2):c.187G>A (p.Gly63Ser)	rs1563497719
NM_001257180.2(SLC20A2):c.188G>A (p.Gly63Asp)	rs1563497714
NM_001257180.2(SLC20A2):c.21del (p.Leu7fs)	rs1563498184
NM_001257180.2(SLC20A2):c.290-1G>A	rs2131192653
NM_001257180.2(SLC20A2):c.303del (p.Trp101fs)	rs1563490467
NM_001257180.2(SLC20A2):c.344C>A (p.Thr115Lys)
NM_001257180.2(SLC20A2):c.852del (p.Ile285fs)

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