ClinVar Miner

List of variants reported as likely benign for Hypogonadotropic hypogonadism 5 with or without anosmia

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.*1502G>A rs181017286 0.00566
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00358
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172 0.00354
NM_017780.4(CHD7):c.2067G>A (p.Thr689=) rs34979623 0.00156
NM_017780.4(CHD7):c.3522+13T>A rs199581494 0.00126
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579 0.00101
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=) rs34527521 0.00100
NM_017780.4(CHD7):c.*1123G>A rs77847411 0.00094
NM_017780.4(CHD7):c.3202-5T>C rs147994149 0.00076
NM_017780.4(CHD7):c.2835+8T>C rs202141372 0.00060
NM_017780.4(CHD7):c.5300+8C>T rs151322460 0.00055
NM_017780.4(CHD7):c.7551A>G (p.Lys2517=) rs202020722 0.00048
NM_017780.4(CHD7):c.1666-15A>G rs372978951 0.00035
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437 0.00034
NM_017780.4(CHD7):c.1188G>T (p.Met396Ile) rs201653177 0.00033
NM_017780.4(CHD7):c.2831G>A (p.Arg944His) rs117506164 0.00030
NM_017780.4(CHD7):c.4437G>A (p.Gly1479=) rs41265246 0.00029
NM_017780.4(CHD7):c.444G>A (p.Arg148=) rs376455384 0.00028
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser) rs199614124 0.00026
NM_017780.4(CHD7):c.1737G>A (p.Gln579=) rs747922099 0.00024
NM_017780.4(CHD7):c.6965A>G (p.Asn2322Ser) rs201470035 0.00024
NM_017780.4(CHD7):c.6711C>T (p.Ser2237=) rs370385319 0.00023
NM_017780.4(CHD7):c.8740G>A (p.Gly2914Arg) rs187751757 0.00019
NM_017780.4(CHD7):c.6247C>T (p.Pro2083Ser) rs370972259 0.00017
NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser) rs200644351 0.00016
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=) rs181927766 0.00016
NM_017780.4(CHD7):c.8661G>A (p.Pro2887=) rs148517660 0.00009
NM_017780.4(CHD7):c.7596G>A (p.Thr2532=) rs375969680 0.00008
NM_017780.4(CHD7):c.8580C>T (p.Ser2860=) rs767368987 0.00007
NM_017780.4(CHD7):c.2680A>G (p.Thr894Ala) rs377662366 0.00006
NM_017780.4(CHD7):c.7294G>A (p.Val2432Met) rs372078650 0.00005
NM_017780.4(CHD7):c.1029C>T (p.Ser343=) rs570815501 0.00004
NM_017780.4(CHD7):c.1030G>A (p.Val344Ile) rs199919181 0.00004
NM_017780.4(CHD7):c.5440G>A (p.Ala1814Thr) rs368609862 0.00004
NM_017780.4(CHD7):c.208G>C (p.Asp70His) rs759847780 0.00002
NM_017780.4(CHD7):c.2189C>T (p.Thr730Ile) rs552946889 0.00002
NM_017780.4(CHD7):c.2824A>G (p.Thr942Ala) rs370194460 0.00002
NM_017780.4(CHD7):c.2787C>T (p.Ile929=) rs771367272
NM_017780.4(CHD7):c.4851T>G (p.Gly1617=) rs181927766
NM_017780.4(CHD7):c.7108G>A (p.Gly2370Ser) rs185940313

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