Total variants: 5
HGVS | dbSNP | gnomAD frequency |
---|---|---|
NM_000257. |
rs145213771 | 0.00001 |
GRCh37/hg19 10q21. |
||
GRCh37/hg19 13q12. |
||
GRCh37/hg19 17q21. |
||
NM_020297. |
rs1592166720 |