List of variants in gene HGSNAT, LOC130000316 studied for Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 101

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HGVS	dbSNP	gnomAD frequency
NM_152419.3(HGSNAT):c.63G>A (p.Ala21=)	rs549139396	0.00230
NM_152419.3(HGSNAT):c.12G>A (p.Ala4=)	rs1018475767	0.00061
NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys)	rs867446205	0.00035
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=)	rs886062952	0.00031
NM_152419.3(HGSNAT):c.32T>C (p.Leu11Pro)	rs1025643467	0.00010
NM_152419.3(HGSNAT):c.118+17T>C	rs912987473	0.00004
NM_152419.3(HGSNAT):c.87G>C (p.Ser29=)	rs1461385635	0.00004
NM_152419.3(HGSNAT):c.90G>T (p.Gly30=)	rs1187482453	0.00002
NM_152419.3(HGSNAT):c.110C>T (p.Pro37Leu)	rs1465935790	0.00001
NM_152419.3(HGSNAT):c.111G>A (p.Pro37=)	rs886062953	0.00001
NM_152419.3(HGSNAT):c.118+10C>A	rs768117824	0.00001
NM_152419.3(HGSNAT):c.118+1G>A	rs1324229618	0.00001
NM_152419.3(HGSNAT):c.39G>C (p.Leu13=)	rs1335563220	0.00001
NM_152419.3(HGSNAT):c.45G>A (p.Ala15=)	rs1351688097	0.00001
NM_152419.3(HGSNAT):c.48C>G (p.Ser16=)	rs1802479958	0.00001
NM_152419.3(HGSNAT):c.60C>T (p.Ala20=)	rs1251787808	0.00001
NM_152419.3(HGSNAT):c.64C>T (p.Leu22=)	rs1164054537	0.00001
NM_152419.3(HGSNAT):c.7G>C (p.Gly3Arg)	rs1387365931	0.00001
NM_152419.3(HGSNAT):c.89G>C (p.Gly30Ala)	rs1490698793	0.00001
NM_152419.3(HGSNAT):c.102G>A (p.Gln34=)
NM_152419.3(HGSNAT):c.105C>G (p.Ala35=)
NM_152419.3(HGSNAT):c.105C>T (p.Ala35=)
NM_152419.3(HGSNAT):c.108G>C (p.Ala36=)	rs886062952
NM_152419.3(HGSNAT):c.10G>C (p.Ala4Pro)
NM_152419.3(HGSNAT):c.10del (p.Ala4fs)
NM_152419.3(HGSNAT):c.110C>G (p.Pro37Arg)	rs1465935790
NM_152419.3(HGSNAT):c.111del (p.Pro38fs)	rs1802484500
NM_152419.3(HGSNAT):c.115C>A (p.Arg39=)
NM_152419.3(HGSNAT):c.117A>C (p.Arg39=)	rs1802484828
NM_152419.3(HGSNAT):c.118+10C>T	rs768117824
NM_152419.3(HGSNAT):c.118+11A>C
NM_152419.3(HGSNAT):c.118+11A>G
NM_152419.3(HGSNAT):c.118+12C>G	rs1408305187
NM_152419.3(HGSNAT):c.118+12C>T
NM_152419.3(HGSNAT):c.118+13C>A
NM_152419.3(HGSNAT):c.118+13C>G
NM_152419.3(HGSNAT):c.118+13C>T
NM_152419.3(HGSNAT):c.118+16C>G	rs1457633859
NM_152419.3(HGSNAT):c.118+16C>T
NM_152419.3(HGSNAT):c.118+18A>C
NM_152419.3(HGSNAT):c.118+18A>G
NM_152419.3(HGSNAT):c.118+19C>T
NM_152419.3(HGSNAT):c.118+20C>G	rs1802485942
NM_152419.3(HGSNAT):c.118+20C>T	rs1802485942
NM_152419.3(HGSNAT):c.118+2T>C	rs2130648749
NM_152419.3(HGSNAT):c.118+5G>A	rs1174944521
NM_152419.3(HGSNAT):c.118+7G>A	rs1298192155
NM_152419.3(HGSNAT):c.118+7G>C
NM_152419.3(HGSNAT):c.118+8C>G	rs2130648798
NM_152419.3(HGSNAT):c.118+8C>T	rs2130648798
NM_152419.3(HGSNAT):c.118+9A>C
NM_152419.3(HGSNAT):c.12G>C (p.Ala4=)	rs1018475767
NM_152419.3(HGSNAT):c.12G>T (p.Ala4=)	rs1018475767
NM_152419.3(HGSNAT):c.14G>T (p.Gly5Val)
NM_152419.3(HGSNAT):c.18G>A (p.Arg6=)
NM_152419.3(HGSNAT):c.21G>A (p.Ala7=)	rs1297145817
NM_152419.3(HGSNAT):c.27C>A (p.Ala9=)	rs1802478612
NM_152419.3(HGSNAT):c.28G>C (p.Ala10Pro)
NM_152419.3(HGSNAT):c.30G>A (p.Ala10=)
NM_152419.3(HGSNAT):c.31_45del (p.Leu11_Ala15del)	rs1274083689
NM_152419.3(HGSNAT):c.34C>T (p.Leu12=)
NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup)	rs961025173
NM_152419.3(HGSNAT):c.37C>T (p.Leu13=)	rs2130647858
NM_152419.3(HGSNAT):c.41C>T (p.Ala14Val)	rs2130647887
NM_152419.3(HGSNAT):c.42C>A (p.Ala14=)
NM_152419.3(HGSNAT):c.42C>T (p.Ala14=)
NM_152419.3(HGSNAT):c.43_44delinsTT (p.Ala15Leu)	rs2130647901
NM_152419.3(HGSNAT):c.43_72del (p.Ala15_Ala24del)	rs2130647831
NM_152419.3(HGSNAT):c.45G>C (p.Ala15=)	rs1351688097
NM_152419.3(HGSNAT):c.48C>T (p.Ser16=)
NM_152419.3(HGSNAT):c.51G>A (p.Val17=)	rs1229423417
NM_152419.3(HGSNAT):c.52C>G (p.Leu18Val)
NM_152419.3(HGSNAT):c.54G>A (p.Leu18=)
NM_152419.3(HGSNAT):c.57C>T (p.Ser19=)
NM_152419.3(HGSNAT):c.64C>G (p.Leu22Val)
NM_152419.3(HGSNAT):c.66G>A (p.Leu22=)	rs2130648121
NM_152419.3(HGSNAT):c.67C>T (p.Leu23=)	rs1198688385
NM_152419.3(HGSNAT):c.69G>A (p.Leu23=)	rs1563349632
NM_152419.3(HGSNAT):c.6C>A (p.Ser2Arg)
NM_152419.3(HGSNAT):c.6C>T (p.Ser2=)	rs535427008
NM_152419.3(HGSNAT):c.72C>T (p.Ala24=)	rs2130648208
NM_152419.3(HGSNAT):c.74C>G (p.Pro25Arg)	rs2130648242
NM_152419.3(HGSNAT):c.74_75del (p.Pro25fs)
NM_152419.3(HGSNAT):c.75C>T (p.Pro25=)
NM_152419.3(HGSNAT):c.78C>T (p.Gly26=)	rs1260742657
NM_152419.3(HGSNAT):c.81C>T (p.Gly27=)
NM_152419.3(HGSNAT):c.82T>C (p.Ser28Pro)	rs1802482509
NM_152419.3(HGSNAT):c.86C>A (p.Ser29Ter)
NM_152419.3(HGSNAT):c.87_100dup (p.Gln34fs)	rs2130648345
NM_152419.3(HGSNAT):c.89G>A (p.Gly30Glu)	rs1490698793
NM_152419.3(HGSNAT):c.8G>C (p.Gly3Ala)
NM_152419.3(HGSNAT):c.90G>C (p.Gly30=)	rs1187482453
NM_152419.3(HGSNAT):c.90dup (p.Arg31fs)	rs2130648385
NM_152419.3(HGSNAT):c.93C>G (p.Arg31=)
NM_152419.3(HGSNAT):c.93C>T (p.Arg31=)
NM_152419.3(HGSNAT):c.96T>A (p.Asp32Glu)
NM_152419.3(HGSNAT):c.98C>T (p.Ala33Val)	rs1802483575
NM_152419.3(HGSNAT):c.99C>A (p.Ala33=)	rs1586689721
NM_152419.3(HGSNAT):c.99C>G (p.Ala33=)	rs1586689721
NM_152419.3(HGSNAT):c.99C>T (p.Ala33=)
NM_152419.3(HGSNAT):c.9G>A (p.Gly3=)

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