List of variants in gene SLC19A3 reported as likely pathogenic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_025243.4(SLC19A3):c.980-14A>G	rs200542114	0.00008
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His)	rs145999922	0.00004
NM_025243.4(SLC19A3):c.854G>A (p.Trp285Ter)	rs373198092	0.00003
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val)	rs121917882	0.00002
NM_025243.4(SLC19A3):c.111del (p.Tyr38fs)	rs1559252723	0.00001
NM_025243.4(SLC19A3):c.1172+1G>A	rs1219632810	0.00001
NM_025243.4(SLC19A3):c.1252C>G (p.Gln418Glu)	rs368364131	0.00001
NC_000002.11:g.(228560798_228563451)_228563704del
NM_025243.4(SLC19A3):c.1172+2T>G	rs2106325851
NM_025243.4(SLC19A3):c.1173-1G>A
NM_025243.4(SLC19A3):c.1228A>C (p.Asn410His)	rs1085307963
NM_025243.4(SLC19A3):c.1253A>G (p.Gln418Arg)	rs1064795112
NM_025243.4(SLC19A3):c.1264A>C (p.Thr422Pro)
NM_025243.4(SLC19A3):c.1385dup (p.Tyr462Ter)
NM_025243.4(SLC19A3):c.1403del (p.Lys468fs)
NM_025243.4(SLC19A3):c.148G>T (p.Glu50Ter)	rs1131691902
NM_025243.4(SLC19A3):c.150+2T>C	rs780157041
NM_025243.4(SLC19A3):c.151-1G>C
NM_025243.4(SLC19A3):c.1A>C (p.Met1Leu)
NM_025243.4(SLC19A3):c.223G>A (p.Asp75Asn)	rs980641322
NM_025243.4(SLC19A3):c.280T>C (p.Trp94Arg)	rs1695586409
NM_025243.4(SLC19A3):c.416T>A (p.Val139Glu)	rs1574560025
NM_025243.4(SLC19A3):c.482_483del (p.Leu161fs)	rs1271884981
NM_025243.4(SLC19A3):c.503_505del (p.Ser168del)	rs763130915
NM_025243.4(SLC19A3):c.597dup (p.His200fs)	rs773140674
NM_025243.4(SLC19A3):c.67G>C (p.Gly23Arg)
NM_025243.4(SLC19A3):c.905T>C (p.Leu302Pro)	rs1695547539

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