Total variants: 7
HGVS | dbSNP | gnomAD frequency |
---|---|---|
NM_004204. |
rs587777543 | 0.00001 |
GRCh37/hg19 15q11. |
||
GRCh37/hg19 8p23. |
||
GRCh37/hg19 8p23. |
||
GRCh37/hg19 Xp22. |
||
NM_004341. |
rs1676249686 | |
NM_004667. |
rs1891259083 |